Canonical Allele Identifier: CA3236224

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 380347
• ClinVar RCV Id: RCV000421275 ; RCV000793633 ; RCV002318404
• dbSNP Id: rs200991784
• ExAC: 5:36986050 G / T
• gnomAD v2: 5-36986050-G-T
• gnomAD v3: 5-36985948-G-T
• gnomAD v4: 5-36985948-G-T
• MyVariant Identifiers: chr5:g.36986050G>T (hg19) ; chr5:g.36985948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985948G>T , CM000667.2:g.36985948G>T	GRCh38
NC_000005.9:g.36986050G>T , CM000667.1:g.36986050G>T	GRCh37
NC_000005.8:g.37021807G>T	NCBI36
NG_006987.1:g.114066G>T
NG_006987.2:g.114066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2768G>T MANE Select	ENSP00000282516.8:p.Gly923Val
ENST00000652901.1:c.2768G>T	ENSP00000499536.1:p.Gly923Val
ENST00000282516.12:c.2768G>T	ENSP00000282516.8:p.Gly923Val
ENST00000448238.2:c.2768G>T	ENSP00000406266.2:p.Gly923Val
ENST00000504430.5:n.2388G>T
ENST00000621733.1:c.1-78630G>T	ENSP00000480694.1:n.1-78630G>T
NM_015384.4:c.2768G>T	NP_056199.2:p.Gly923Val
NM_133433.3:c.2768G>T	NP_597677.2:p.Gly923Val
XM_005248280.2:c.2768G>T	XP_005248337.1:p.Gly923Val
XM_005248282.3:c.2024G>T	XP_005248339.2:p.Gly675Val
XM_006714467.2:c.2768G>T	XP_006714530.1:p.Gly923Val
XM_006714468.1:c.2768G>T	XP_006714531.1:p.Gly923Val
XM_011514014.1:c.2768G>T	XP_011512316.1:p.Gly923Val
XM_011514015.1:c.2768G>T	XP_011512317.1:p.Gly923Val
XM_005248280.3:c.2768G>T	XP_005248337.1:p.Gly923Val
XM_005248282.5:c.2108G>T	XP_005248339.3:p.Gly703Val
XM_006714468.2:c.2768G>T	XP_006714531.1:p.Gly923Val
XM_017009329.1:c.2768G>T	XP_016864818.1:p.Gly923Val
XM_017009330.2:c.1151G>T	XP_016864819.1:p.Gly384Val
XM_017009331.1:c.1495+9546G>T	XP_016864820.1:n.1495+9546G>T
NM_133433.4:c.2768G>T MANE Select	NP_597677.2:p.Gly923Val
NM_015384.5:c.2768G>T	NP_056199.2:p.Gly923Val