Canonical Allele Identifier: CA359522366

Gene: NIPBL CPLANE1

Linked Data

• COSMIC: COSM5931692
• MyVariant Identifiers: chr5:g.37064740C>T (hg19) ; chr5:g.37064638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064638C>T , CM000667.2:g.37064638C>T	GRCh38
NC_000005.9:g.37064740C>T , CM000667.1:g.37064740C>T	GRCh37
NC_000005.8:g.37100497C>T	NCBI36
NG_006987.1:g.192756C>T
NG_006987.2:g.192756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8161C>T (NIPBL) MANE Select	ENSP00000282516.8:p.Arg2721Ter
ENST00000652901.1:c.*105C>T (NIPBL)	ENSP00000499536.1:n.*105C>T
ENST00000282516.12:c.8161C>T (NIPBL)	ENSP00000282516.8:p.Arg2721Ter
ENST00000514335.1:n.2084C>T (NIPBL)
ENST00000621733.1:c.61C>T (NIPBL)	ENSP00000480694.1:p.Arg21Ter
NM_015384.4:c.*615C>T (NIPBL)	NP_056199.2:n.*615C>T
NM_133433.3:c.8161C>T (NIPBL)	NP_597677.2:p.Arg2721Ter
XM_005248280.2:c.*105C>T (NIPBL)	XP_005248337.1:n.*105C>T
XM_005248282.3:c.7417C>T (NIPBL)	XP_005248339.2:p.Arg2473Ter
XM_006714467.2:c.8014C>T (NIPBL)	XP_006714530.1:p.Arg2672Ter
XM_006714468.1:c.7963C>T (NIPBL)	XP_006714531.1:p.Arg2655Ter
XM_011514014.1:c.7780C>T (NIPBL)	XP_011512316.1:p.Arg2594Ter
XM_005248280.3:c.*105C>T (NIPBL)	XP_005248337.1:n.*105C>T
XM_005248282.5:c.7501C>T (NIPBL)	XP_005248339.3:p.Arg2501Ter
XM_006714468.2:c.7963C>T (NIPBL)	XP_006714531.1:p.Arg2655Ter
XM_017009329.1:c.*105C>T (NIPBL)	XP_016864818.1:n.*105C>T
XM_017009330.2:c.6544C>T (NIPBL)	XP_016864819.1:p.Arg2182Ter
XM_017009331.1:c.6535C>T (NIPBL)	XP_016864820.1:p.Arg2179Ter
XR_925644.2:n.12044G>A (CPLANE1)
NM_133433.4:c.8161C>T (NIPBL) MANE Select	NP_597677.2:p.Arg2721Ter
NM_015384.5:c.*615C>T (NIPBL)	NP_056199.2:n.*615C>T