Canonical Allele Identifier: CA3237154

Gene: NIPBL

Linked Data

• dbSNP Id: rs765741574
• ExAC: 5:37052604 G / A
• gnomAD v2: 5-37052604-G-A
• gnomAD v4: 5-37052502-G-A
• MyVariant Identifiers: chr5:g.37052604G>A (hg19) ; chr5:g.37052502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052502G>A , CM000667.2:g.37052502G>A	GRCh38
NC_000005.9:g.37052604G>A , CM000667.1:g.37052604G>A	GRCh37
NC_000005.8:g.37088361G>A	NCBI36
NG_006987.1:g.180620G>A
NG_006987.2:g.180620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7199G>A MANE Select	ENSP00000282516.8:p.Arg2400His
ENST00000652901.1:c.7199G>A	ENSP00000499536.1:p.Arg2400His
ENST00000282516.12:c.7199G>A	ENSP00000282516.8:p.Arg2400His
ENST00000448238.2:c.7199G>A	ENSP00000406266.2:p.Arg2400His
ENST00000514335.1:n.1081G>A
ENST00000621733.1:c.1-12076G>A	ENSP00000480694.1:n.1-12076G>A
NM_015384.4:c.7199G>A	NP_056199.2:p.Arg2400His
NM_133433.3:c.7199G>A	NP_597677.2:p.Arg2400His
XM_005248280.2:c.7199G>A	XP_005248337.1:p.Arg2400His
XM_005248282.3:c.6455G>A	XP_005248339.2:p.Arg2152His
XM_006714467.2:c.7199G>A	XP_006714530.1:p.Arg2400His
XM_006714468.1:c.7001G>A	XP_006714531.1:p.Arg2334His
XM_011514014.1:c.6818G>A	XP_011512316.1:p.Arg2273His
XM_011514015.1:c.7199G>A	XP_011512317.1:p.Arg2400His
XM_005248280.3:c.7199G>A	XP_005248337.1:p.Arg2400His
XM_005248282.5:c.6539G>A	XP_005248339.3:p.Arg2180His
XM_006714468.2:c.7001G>A	XP_006714531.1:p.Arg2334His
XM_017009329.1:c.7199G>A	XP_016864818.1:p.Arg2400His
XM_017009330.2:c.5582G>A	XP_016864819.1:p.Arg1861His
XM_017009331.1:c.5573G>A	XP_016864820.1:p.Arg1858His
NM_133433.4:c.7199G>A MANE Select	NP_597677.2:p.Arg2400His
NM_015384.5:c.7199G>A	NP_056199.2:p.Arg2400His