Canonical Allele Identifier: CA443909429

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1691033
• ClinVar RCV Id: RCV002252625
• dbSNP Id: rs1400161680
• gnomAD v2: 5-37051901-T-C
• gnomAD v4: 5-37051799-T-C
• MyVariant Identifiers: chr5:g.37051901T>C (hg19) ; chr5:g.37051799T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051799T>C , CM000667.2:g.37051799T>C	GRCh38
NC_000005.9:g.37051901T>C , CM000667.1:g.37051901T>C	GRCh37
NC_000005.8:g.37087658T>C	NCBI36
NG_006987.1:g.179917T>C
NG_006987.2:g.179917T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6975T>C MANE Select	ENSP00000282516.8:p.Ala2325=
ENST00000652901.1:c.6975T>C	ENSP00000499536.1:p.Ala2325=
ENST00000282516.12:c.6975T>C	ENSP00000282516.8:p.Ala2325=
ENST00000448238.2:c.6975T>C	ENSP00000406266.2:p.Ala2325=
ENST00000514335.1:n.857T>C
ENST00000621733.1:c.1-12779T>C	ENSP00000480694.1:n.1-12779T>C
NM_015384.4:c.6975T>C	NP_056199.2:p.Ala2325=
NM_133433.3:c.6975T>C	NP_597677.2:p.Ala2325=
XM_005248280.2:c.6975T>C	XP_005248337.1:p.Ala2325=
XM_005248282.3:c.6231T>C	XP_005248339.2:p.Ala2077=
XM_006714467.2:c.6975T>C	XP_006714530.1:p.Ala2325=
XM_006714468.1:c.6777T>C	XP_006714531.1:p.Ala2259=
XM_011514014.1:c.6594T>C	XP_011512316.1:p.Ala2198=
XM_011514015.1:c.6975T>C	XP_011512317.1:p.Ala2325=
XM_005248280.3:c.6975T>C	XP_005248337.1:p.Ala2325=
XM_005248282.5:c.6315T>C	XP_005248339.3:p.Ala2105=
XM_006714468.2:c.6777T>C	XP_006714531.1:p.Ala2259=
XM_017009329.1:c.6975T>C	XP_016864818.1:p.Ala2325=
XM_017009330.2:c.5358T>C	XP_016864819.1:p.Ala1786=
XM_017009331.1:c.5349T>C	XP_016864820.1:p.Ala1783=
NM_133433.4:c.6975T>C MANE Select	NP_597677.2:p.Ala2325=
NM_015384.5:c.6975T>C	NP_056199.2:p.Ala2325=