Canonical Allele Identifier: CA3237340

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs147110911
• ExAC: 5:37064702 T / C
• gnomAD v2: 5-37064702-T-C
• gnomAD v3: 5-37064600-T-C
• gnomAD v4: 5-37064600-T-C
• MyVariant Identifiers: chr5:g.37064702T>C (hg19) ; chr5:g.37064600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064600T>C , CM000667.2:g.37064600T>C	GRCh38
NC_000005.9:g.37064702T>C , CM000667.1:g.37064702T>C	GRCh37
NC_000005.8:g.37100459T>C	NCBI36
NG_006987.1:g.192718T>C
NG_006987.2:g.192718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8123T>C (NIPBL) MANE Select	ENSP00000282516.8:p.Met2708Thr
ENST00000652901.1:c.*67T>C (NIPBL)	ENSP00000499536.1:n.*67T>C
ENST00000282516.12:c.8123T>C (NIPBL)	ENSP00000282516.8:p.Met2708Thr
ENST00000514335.1:n.2046T>C (NIPBL)
ENST00000621733.1:c.23T>C (NIPBL)	ENSP00000480694.1:p.Met8Thr
NM_015384.4:c.*577T>C (NIPBL)	NP_056199.2:n.*577T>C
NM_133433.3:c.8123T>C (NIPBL)	NP_597677.2:p.Met2708Thr
XM_005248280.2:c.*67T>C (NIPBL)	XP_005248337.1:n.*67T>C
XM_005248282.3:c.7379T>C (NIPBL)	XP_005248339.2:p.Met2460Thr
XM_006714467.2:c.7976T>C (NIPBL)	XP_006714530.1:p.Met2659Thr
XM_006714468.1:c.7925T>C (NIPBL)	XP_006714531.1:p.Met2642Thr
XM_011514014.1:c.7742T>C (NIPBL)	XP_011512316.1:p.Met2581Thr
XM_005248280.3:c.*67T>C (NIPBL)	XP_005248337.1:n.*67T>C
XM_005248282.5:c.7463T>C (NIPBL)	XP_005248339.3:p.Met2488Thr
XM_006714468.2:c.7925T>C (NIPBL)	XP_006714531.1:p.Met2642Thr
XM_017009329.1:c.*67T>C (NIPBL)	XP_016864818.1:n.*67T>C
XM_017009330.2:c.6506T>C (NIPBL)	XP_016864819.1:p.Met2169Thr
XM_017009331.1:c.6497T>C (NIPBL)	XP_016864820.1:p.Met2166Thr
XR_925644.2:n.12082A>G (CPLANE1)
NM_133433.4:c.8123T>C (NIPBL) MANE Select	NP_597677.2:p.Met2708Thr
NM_015384.5:c.*577T>C (NIPBL)	NP_056199.2:n.*577T>C