Canonical Allele Identifier: CA3236294

Gene: NIPBL

Linked Data

• dbSNP Id: rs368762999
• ExAC: 5:36995743 G / A
• gnomAD v2: 5-36995743-G-A
• gnomAD v4: 5-36995641-G-A
• MyVariant Identifiers: chr5:g.36995743G>A (hg19) ; chr5:g.36995641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995641G>A , CM000667.2:g.36995641G>A	GRCh38
NC_000005.9:g.36995743G>A , CM000667.1:g.36995743G>A	GRCh37
NC_000005.8:g.37031500G>A	NCBI36
NG_006987.1:g.123759G>A
NG_006987.2:g.123759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3141G>A MANE Select	ENSP00000282516.8:p.Val1047=
ENST00000652901.1:c.3141G>A	ENSP00000499536.1:p.Val1047=
ENST00000282516.12:c.3141G>A	ENSP00000282516.8:p.Val1047=
ENST00000448238.2:c.3141G>A	ENSP00000406266.2:p.Val1047=
ENST00000503274.1:n.492G>A
ENST00000504430.5:n.2761G>A
ENST00000621733.1:c.1-68937G>A	ENSP00000480694.1:n.1-68937G>A
NM_015384.4:c.3141G>A	NP_056199.2:p.Val1047=
NM_133433.3:c.3141G>A	NP_597677.2:p.Val1047=
XM_005248280.2:c.3141G>A	XP_005248337.1:p.Val1047=
XM_005248282.3:c.2397G>A	XP_005248339.2:p.Val799=
XM_006714467.2:c.3141G>A	XP_006714530.1:p.Val1047=
XM_006714468.1:c.3141G>A	XP_006714531.1:p.Val1047=
XM_011514014.1:c.3122-5176G>A	XP_011512316.1:n.3122-5176G>A
XM_011514015.1:c.3141G>A	XP_011512317.1:p.Val1047=
XM_005248280.3:c.3141G>A	XP_005248337.1:p.Val1047=
XM_005248282.5:c.2481G>A	XP_005248339.3:p.Val827=
XM_006714468.2:c.3141G>A	XP_006714531.1:p.Val1047=
XM_017009329.1:c.3141G>A	XP_016864818.1:p.Val1047=
XM_017009330.2:c.1524G>A	XP_016864819.1:p.Val508=
XM_017009331.1:c.1515G>A	XP_016864820.1:p.Val505=
NM_133433.4:c.3141G>A MANE Select	NP_597677.2:p.Val1047=
NM_015384.5:c.3141G>A	NP_056199.2:p.Val1047=