Canonical Allele Identifier: CA348778723

Gene: NEB RIF1

Linked Data

• gnomAD v4: 2-151497629-G-T
• MyVariant Identifiers: chr2:g.152354143G>T (hg19) ; chr2:g.151497629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151497629G>T , CM000664.2:g.151497629G>T	GRCh38
NC_000002.11:g.152354143G>T , CM000664.1:g.152354143G>T	GRCh37
NC_000002.10:g.152062389G>T	NCBI36
NG_009382.2:g.241859C>A , LRG_202:g.241859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434685.6:c.3075-5135C>A (NEB)
ENST00000688578.1:c.900-596C>A (NEB)
ENST00000690043.1:c.6378-3376C>A (NEB)
ENST00000693000.1:n.2657-5135C>A (NEB)
ENST00000397345.8:c.24297C>A (NEB) MANE Select	ENSP00000380505.3:p.Ser8099Arg
ENST00000427231.7:c.24297C>A (NEB) MANE Plus Clinical	ENSP00000416578.2:p.Ser8099Arg
ENST00000172853.14:c.18826-1261C>A (NEB)	ENSP00000172853.10:n.18826-1261C>A
ENST00000397337.6:c.698C>A (NEB)
ENST00000397345.7:c.24297C>A (NEB)	ENSP00000380505.3:p.Ser8099Arg
ENST00000409198.5:c.18826-1261C>A (NEB)	ENSP00000386259.1:n.18826-1261C>A
ENST00000413693.5:c.8026-1261C>A (NEB)	ENSP00000410961.1:n.8026-1261C>A
ENST00000421461.6:c.733C>A (NEB)
ENST00000424585.1:c.610-596C>A (NEB)	ENSP00000404876.1:n.610-596C>A
ENST00000427231.6:c.24297C>A (NEB)	ENSP00000416578.2:p.Ser8099Arg
ENST00000434685.5:c.1395-3376C>A (NEB)
ENST00000454583.6:c.2754-1716G>T (RIF1)
ENST00000457745.1:n.579-157G>T (RIF1)
ENST00000484077.1:n.353-157G>T (RIF1)
ENST00000498015.2:n.226-5135C>A (NEB)
ENST00000603639.5:c.24297C>A (NEB)	ENSP00000473894.1:p.Ser8099Arg
ENST00000604864.5:c.24297C>A (NEB)	ENSP00000474498.1:p.Ser8099Arg
ENST00000618972.4:c.24402C>A (NEB)	ENSP00000484342.1:p.Ser8134Arg
NM_001164507.1:c.24297C>A (NEB)	NP_001157979.1:p.Ser8099Arg
NM_001164508.1:c.24297C>A (NEB)	NP_001157980.1:p.Ser8099Arg
NM_001271208.1:c.24402C>A , LRG_202t1:c.24402C>A (NEB)	NP_001258137.1:p.Ser8134Arg
NM_004543.4:c.18826-1261C>A (NEB)	NP_004534.2:n.18826-1261C>A
XM_005246590.1:c.24204C>A (NEB)	XP_005246647.1:p.Ser8068Arg
XM_005246591.1:c.24204C>A (NEB)	XP_005246648.1:p.Ser8068Arg
XM_005246592.1:c.24297C>A (NEB)	XP_005246649.1:p.Ser8099Arg
XM_005246593.1:c.24297C>A (NEB)	XP_005246650.1:p.Ser8099Arg
XM_005246594.1:c.24204C>A (NEB)	XP_005246651.1:p.Ser8068Arg
XM_005246595.1:c.24204C>A (NEB)	XP_005246652.1:p.Ser8068Arg
XM_005246596.1:c.24111C>A (NEB)	XP_005246653.1:p.Ser8037Arg
XM_005246597.1:c.24297C>A (NEB)	XP_005246654.1:p.Ser8099Arg
XM_005246598.1:c.24297C>A (NEB)	XP_005246655.1:p.Ser8099Arg
XM_005246599.1:c.24018C>A (NEB)	XP_005246656.1:p.Ser8006Arg
XM_005246600.1:c.24018C>A (NEB)	XP_005246657.1:p.Ser8006Arg
XM_005246601.1:c.23929-596C>A (NEB)	XP_005246658.1:n.23929-596C>A
XM_005246602.1:c.23925C>A (NEB)	XP_005246659.1:p.Ser7975Arg
XM_005246603.1:c.23929-1261C>A (NEB)	XP_005246660.1:n.23929-1261C>A
XM_005246604.1:c.23929-596C>A (NEB)	XP_005246661.1:n.23929-596C>A
XM_005246606.1:c.23925C>A (NEB)	XP_005246663.1:p.Ser7975Arg
XM_005246608.1:c.23929-3376C>A (NEB)	XP_005246665.1:n.23929-3376C>A
XM_005246610.1:c.23836-3376C>A (NEB)	XP_005246667.1:n.23836-3376C>A
XM_005246611.1:c.24021+3762C>A (NEB)	XP_005246668.1:n.24021+3762C>A
XM_005246612.1:c.23568C>A (NEB)	XP_005246669.1:p.Ser7856Arg
XM_005246613.1:c.23568C>A (NEB)	XP_005246670.1:p.Ser7856Arg
XM_005246615.1:c.23925C>A (NEB)	XP_005246672.1:p.Ser7975Arg
XM_005246616.1:c.*595C>A (NEB)	XP_005246673.1:n.*595C>A
XM_005246617.1:c.21381C>A (NEB)	XP_005246674.1:p.Ser7127Arg
XM_006712541.1:c.23929-1261C>A (NEB)	XP_006712604.1:n.23929-1261C>A
XM_006712542.1:c.24018C>A (NEB)	XP_006712605.1:p.Ser8006Arg
XM_011511224.1:c.24204C>A (NEB)	XP_011509526.1:p.Ser8068Arg
XM_011511225.1:c.23743-3376C>A (NEB)	XP_011509527.1:n.23743-3376C>A
XM_011511226.1:c.22110C>A (NEB)	XP_011509528.1:p.Ser7370Arg
XM_011511227.1:c.19923C>A (NEB)	XP_011509529.1:p.Ser6641Arg
XR_922955.1:n.7838+14294G>T (RIF1)
XR_922956.1:n.7937-157G>T (RIF1)
XR_922957.1:n.7839-157G>T (RIF1)
XM_005246590.2:c.24204C>A (NEB)	XP_005246647.1:p.Ser8068Arg
XM_005246591.2:c.24204C>A (NEB)	XP_005246648.1:p.Ser8068Arg
XM_005246592.2:c.24297C>A (NEB)	XP_005246649.1:p.Ser8099Arg
XM_005246593.2:c.24297C>A (NEB)	XP_005246650.1:p.Ser8099Arg
XM_005246594.2:c.24204C>A (NEB)	XP_005246651.1:p.Ser8068Arg
XM_005246596.2:c.24111C>A (NEB)	XP_005246653.1:p.Ser8037Arg
XM_005246597.2:c.24297C>A (NEB)	XP_005246654.1:p.Ser8099Arg
XM_005246598.2:c.24297C>A (NEB)	XP_005246655.1:p.Ser8099Arg
XM_005246599.2:c.24018C>A (NEB)	XP_005246656.1:p.Ser8006Arg
XM_005246601.2:c.23929-596C>A (NEB)	XP_005246658.1:n.23929-596C>A
XM_005246602.2:c.23925C>A (NEB)	XP_005246659.1:p.Ser7975Arg
XM_005246603.2:c.23929-1261C>A (NEB)	XP_005246660.1:n.23929-1261C>A
XM_005246604.2:c.23929-596C>A (NEB)	XP_005246661.1:n.23929-596C>A
XM_005246606.2:c.23925C>A (NEB)	XP_005246663.1:p.Ser7975Arg
XM_005246608.2:c.23929-3376C>A (NEB)	XP_005246665.1:n.23929-3376C>A
XM_005246610.2:c.23836-3376C>A (NEB)	XP_005246667.1:n.23836-3376C>A
XM_005246611.2:c.24021+3762C>A (NEB)	XP_005246668.1:n.24021+3762C>A
XM_005246612.2:c.23568C>A (NEB)	XP_005246669.1:p.Ser7856Arg
XM_005246613.2:c.23568C>A (NEB)	XP_005246670.1:p.Ser7856Arg
XM_005246615.2:c.23925C>A (NEB)	XP_005246672.1:p.Ser7975Arg
XM_005246617.2:c.21381C>A (NEB)	XP_005246674.1:p.Ser7127Arg
XM_006712541.2:c.23929-1261C>A (NEB)	XP_006712604.1:n.23929-1261C>A
XM_006712542.2:c.24018C>A (NEB)	XP_006712605.1:p.Ser8006Arg
XM_011511225.2:c.23743-3376C>A (NEB)	XP_011509527.1:n.23743-3376C>A
XM_011511226.2:c.22110C>A (NEB)	XP_011509528.1:p.Ser7370Arg
XM_011511227.2:c.19923C>A (NEB)	XP_011509529.1:p.Ser6641Arg
XM_017004177.1:c.24186C>A (NEB)	XP_016859666.1:p.Ser8062Arg
XM_017004178.1:c.24111C>A (NEB)	XP_016859667.1:p.Ser8037Arg
XM_017004179.1:c.23836-596C>A (NEB)	XP_016859668.1:n.23836-596C>A
XM_017004180.1:c.23832C>A (NEB)	XP_016859669.1:p.Ser7944Arg
XM_017004181.1:c.23836-1261C>A (NEB)	XP_016859670.1:n.23836-1261C>A
XM_017004182.1:c.23836-1261C>A (NEB)	XP_016859671.1:n.23836-1261C>A
XM_017004183.1:c.23836-3376C>A (NEB)	XP_016859672.1:n.23836-3376C>A
XM_017004184.1:c.23836-1261C>A (NEB)	XP_016859673.1:n.23836-1261C>A
XM_017004185.1:c.23743-5135C>A (NEB)	XP_016859674.1:n.23743-5135C>A
XR_001738811.2:n.8312-157G>T (RIF1)
XR_001738812.2:n.8312-1776G>T (RIF1)
XR_001738813.2:n.8214-157G>T (RIF1)
XR_001738814.2:n.8214-1776G>T (RIF1)
XR_001738815.2:n.8214-5405G>T (RIF1)
XR_001738816.2:n.8214-8581G>T (RIF1)
XR_001738817.2:n.8213+14294G>T (RIF1)
NM_001271208.2:c.24402C>A (NEB)	NP_001258137.2:p.Ser8134Arg
NM_004543.5:c.18826-1261C>A (NEB)	NP_004534.3:n.18826-1261C>A
NM_001164507.2:c.24297C>A (NEB) MANE Plus Clinical	NP_001157979.2:p.Ser8099Arg
NM_001164508.2:c.24297C>A (NEB) MANE Select	NP_001157980.2:p.Ser8099Arg