Canonical Allele Identifier: CA359517905

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 3017964
• ClinVar RCV Id: RCV003874563
• dbSNP Id: rs1284341563
• gnomAD v2: 5-37000619-G-A
• gnomAD v4: 5-37000517-G-A
• MyVariant Identifiers: chr5:g.37000619G>A (hg19) ; chr5:g.37000517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000517G>A , CM000667.2:g.37000517G>A	GRCh38
NC_000005.9:g.37000619G>A , CM000667.1:g.37000619G>A	GRCh37
NC_000005.8:g.37036376G>A	NCBI36
NG_006987.1:g.128635G>A
NG_006987.2:g.128635G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3449G>A MANE Select	ENSP00000282516.8:p.Ser1150Asn
ENST00000652901.1:c.3449G>A	ENSP00000499536.1:p.Ser1150Asn
ENST00000282516.12:c.3449G>A	ENSP00000282516.8:p.Ser1150Asn
ENST00000448238.2:c.3449G>A	ENSP00000406266.2:p.Ser1150Asn
ENST00000621733.1:c.1-64061G>A	ENSP00000480694.1:n.1-64061G>A
NM_015384.4:c.3449G>A	NP_056199.2:p.Ser1150Asn
NM_133433.3:c.3449G>A	NP_597677.2:p.Ser1150Asn
XM_005248280.2:c.3449G>A	XP_005248337.1:p.Ser1150Asn
XM_005248282.3:c.2705G>A	XP_005248339.2:p.Ser902Asn
XM_006714467.2:c.3449G>A	XP_006714530.1:p.Ser1150Asn
XM_006714468.1:c.3305-300G>A	XP_006714531.1:n.3305-300G>A
XM_011514014.1:c.3122-300G>A	XP_011512316.1:n.3122-300G>A
XM_011514015.1:c.3449G>A	XP_011512317.1:p.Ser1150Asn
XM_005248280.3:c.3449G>A	XP_005248337.1:p.Ser1150Asn
XM_005248282.5:c.2789G>A	XP_005248339.3:p.Ser930Asn
XM_006714468.2:c.3305-300G>A	XP_006714531.1:n.3305-300G>A
XM_017009329.1:c.3449G>A	XP_016864818.1:p.Ser1150Asn
XM_017009330.2:c.1832G>A	XP_016864819.1:p.Ser611Asn
XM_017009331.1:c.1823G>A	XP_016864820.1:p.Ser608Asn
NM_133433.4:c.3449G>A MANE Select	NP_597677.2:p.Ser1150Asn
NM_015384.5:c.3449G>A	NP_056199.2:p.Ser1150Asn