Canonical Allele Identifier: CA359511377

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2980197
• ClinVar RCV Id: RCV003837371
• dbSNP Id: rs1210670441
• gnomAD v2: 5-37052540-G-A
• gnomAD v4: 5-37052438-G-A
• MyVariant Identifiers: chr5:g.37052540G>A (hg19) ; chr5:g.37052438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052438G>A , CM000667.2:g.37052438G>A	GRCh38
NC_000005.9:g.37052540G>A , CM000667.1:g.37052540G>A	GRCh37
NC_000005.8:g.37088297G>A	NCBI36
NG_006987.1:g.180556G>A
NG_006987.2:g.180556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7135G>A MANE Select	ENSP00000282516.8:p.Val2379Ile
ENST00000652901.1:c.7135G>A	ENSP00000499536.1:p.Val2379Ile
ENST00000282516.12:c.7135G>A	ENSP00000282516.8:p.Val2379Ile
ENST00000448238.2:c.7135G>A	ENSP00000406266.2:p.Val2379Ile
ENST00000514335.1:n.1017G>A
ENST00000621733.1:c.1-12140G>A	ENSP00000480694.1:n.1-12140G>A
NM_015384.4:c.7135G>A	NP_056199.2:p.Val2379Ile
NM_133433.3:c.7135G>A	NP_597677.2:p.Val2379Ile
XM_005248280.2:c.7135G>A	XP_005248337.1:p.Val2379Ile
XM_005248282.3:c.6391G>A	XP_005248339.2:p.Val2131Ile
XM_006714467.2:c.7135G>A	XP_006714530.1:p.Val2379Ile
XM_006714468.1:c.6937G>A	XP_006714531.1:p.Val2313Ile
XM_011514014.1:c.6754G>A	XP_011512316.1:p.Val2252Ile
XM_011514015.1:c.7135G>A	XP_011512317.1:p.Val2379Ile
XM_005248280.3:c.7135G>A	XP_005248337.1:p.Val2379Ile
XM_005248282.5:c.6475G>A	XP_005248339.3:p.Val2159Ile
XM_006714468.2:c.6937G>A	XP_006714531.1:p.Val2313Ile
XM_017009329.1:c.7135G>A	XP_016864818.1:p.Val2379Ile
XM_017009330.2:c.5518G>A	XP_016864819.1:p.Val1840Ile
XM_017009331.1:c.5509G>A	XP_016864820.1:p.Val1837Ile
NM_133433.4:c.7135G>A MANE Select	NP_597677.2:p.Val2379Ile
NM_015384.5:c.7135G>A	NP_056199.2:p.Val2379Ile