Canonical Allele Identifier: CA359511000

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37052470G>C (hg19) ; chr5:g.37052368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052368G>C , CM000667.2:g.37052368G>C	GRCh38
NC_000005.9:g.37052470G>C , CM000667.1:g.37052470G>C	GRCh37
NC_000005.8:g.37088227G>C	NCBI36
NG_006987.1:g.180486G>C
NG_006987.2:g.180486G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7065G>C MANE Select	ENSP00000282516.8:p.Met2355Ile
ENST00000652901.1:c.7065G>C	ENSP00000499536.1:p.Met2355Ile
ENST00000282516.12:c.7065G>C	ENSP00000282516.8:p.Met2355Ile
ENST00000448238.2:c.7065G>C	ENSP00000406266.2:p.Met2355Ile
ENST00000514335.1:n.947G>C
ENST00000621733.1:c.1-12210G>C	ENSP00000480694.1:n.1-12210G>C
NM_015384.4:c.7065G>C	NP_056199.2:p.Met2355Ile
NM_133433.3:c.7065G>C	NP_597677.2:p.Met2355Ile
XM_005248280.2:c.7065G>C	XP_005248337.1:p.Met2355Ile
XM_005248282.3:c.6321G>C	XP_005248339.2:p.Met2107Ile
XM_006714467.2:c.7065G>C	XP_006714530.1:p.Met2355Ile
XM_006714468.1:c.6867G>C	XP_006714531.1:p.Met2289Ile
XM_011514014.1:c.6684G>C	XP_011512316.1:p.Met2228Ile
XM_011514015.1:c.7065G>C	XP_011512317.1:p.Met2355Ile
XM_005248280.3:c.7065G>C	XP_005248337.1:p.Met2355Ile
XM_005248282.5:c.6405G>C	XP_005248339.3:p.Met2135Ile
XM_006714468.2:c.6867G>C	XP_006714531.1:p.Met2289Ile
XM_017009329.1:c.7065G>C	XP_016864818.1:p.Met2355Ile
XM_017009330.2:c.5448G>C	XP_016864819.1:p.Met1816Ile
XM_017009331.1:c.5439G>C	XP_016864820.1:p.Met1813Ile
NM_133433.4:c.7065G>C MANE Select	NP_597677.2:p.Met2355Ile
NM_015384.5:c.7065G>C	NP_056199.2:p.Met2355Ile