Canonical Allele Identifier: CA359474242

Gene: NIPBL

Linked Data

• dbSNP Id: rs1740843039
• gnomAD v3: 5-36955571-C-T
• gnomAD v4: 5-36955571-C-T
• MyVariant Identifiers: chr5:g.36955673C>T (hg19) ; chr5:g.36955571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36955571C>T , CM000667.2:g.36955571C>T	GRCh38
NC_000005.9:g.36955673C>T , CM000667.1:g.36955673C>T	GRCh37
NC_000005.8:g.36991430C>T	NCBI36
NG_006987.1:g.83689C>T
NG_006987.2:g.83689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.164C>T MANE Select	ENSP00000282516.8:p.Ala55Val
ENST00000652901.1:c.164C>T	ENSP00000499536.1:p.Ala55Val
ENST00000282516.12:c.164C>T	ENSP00000282516.8:p.Ala55Val
ENST00000448238.2:c.164C>T	ENSP00000406266.2:p.Ala55Val
ENST00000505998.5:n.143C>T
ENST00000621733.1:c.-1+78549C>T	ENSP00000480694.1:n.-1+78549C>T
NM_015384.4:c.164C>T	NP_056199.2:p.Ala55Val
NM_133433.3:c.164C>T	NP_597677.2:p.Ala55Val
XM_005248280.2:c.164C>T	XP_005248337.1:p.Ala55Val
XM_006714467.2:c.164C>T	XP_006714530.1:p.Ala55Val
XM_006714468.1:c.164C>T	XP_006714531.1:p.Ala55Val
XM_011514014.1:c.164C>T	XP_011512316.1:p.Ala55Val
XM_011514015.1:c.164C>T	XP_011512317.1:p.Ala55Val
XM_005248280.3:c.164C>T	XP_005248337.1:p.Ala55Val
XM_006714468.2:c.164C>T	XP_006714531.1:p.Ala55Val
XM_017009329.1:c.164C>T	XP_016864818.1:p.Ala55Val
XM_017009331.1:c.164C>T	XP_016864820.1:p.Ala55Val
NM_133433.4:c.164C>T MANE Select	NP_597677.2:p.Ala55Val
NM_015384.5:c.164C>T	NP_056199.2:p.Ala55Val