Canonical Allele Identifier: CA359517532

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2486860
• ClinVar RCV Id: RCV003210714
• dbSNP Id: rs1365989885
• gnomAD v2: 5-37000529-G-A
• gnomAD v3: 5-37000427-G-A
• gnomAD v4: 5-37000427-G-A
• MyVariant Identifiers: chr5:g.37000529G>A (hg19) ; chr5:g.37000427G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000427G>A , CM000667.2:g.37000427G>A	GRCh38
NC_000005.9:g.37000529G>A , CM000667.1:g.37000529G>A	GRCh37
NC_000005.8:g.37036286G>A	NCBI36
NG_006987.1:g.128545G>A
NG_006987.2:g.128545G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3359G>A MANE Select	ENSP00000282516.8:p.Arg1120His
ENST00000652901.1:c.3359G>A	ENSP00000499536.1:p.Arg1120His
ENST00000282516.12:c.3359G>A	ENSP00000282516.8:p.Arg1120His
ENST00000448238.2:c.3359G>A	ENSP00000406266.2:p.Arg1120His
ENST00000503274.1:n.710G>A
ENST00000621733.1:c.1-64151G>A	ENSP00000480694.1:n.1-64151G>A
NM_015384.4:c.3359G>A	NP_056199.2:p.Arg1120His
NM_133433.3:c.3359G>A	NP_597677.2:p.Arg1120His
XM_005248280.2:c.3359G>A	XP_005248337.1:p.Arg1120His
XM_005248282.3:c.2615G>A	XP_005248339.2:p.Arg872His
XM_006714467.2:c.3359G>A	XP_006714530.1:p.Arg1120His
XM_006714468.1:c.3305-390G>A	XP_006714531.1:n.3305-390G>A
XM_011514014.1:c.3122-390G>A	XP_011512316.1:n.3122-390G>A
XM_011514015.1:c.3359G>A	XP_011512317.1:p.Arg1120His
XM_005248280.3:c.3359G>A	XP_005248337.1:p.Arg1120His
XM_005248282.5:c.2699G>A	XP_005248339.3:p.Arg900His
XM_006714468.2:c.3305-390G>A	XP_006714531.1:n.3305-390G>A
XM_017009329.1:c.3359G>A	XP_016864818.1:p.Arg1120His
XM_017009330.2:c.1742G>A	XP_016864819.1:p.Arg581His
XM_017009331.1:c.1733G>A	XP_016864820.1:p.Arg578His
NM_133433.4:c.3359G>A MANE Select	NP_597677.2:p.Arg1120His
NM_015384.5:c.3359G>A	NP_056199.2:p.Arg1120His