Canonical Allele Identifier: CA359475289

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36958219-T-C
• MyVariant Identifiers: chr5:g.36958321T>C (hg19) ; chr5:g.36958219T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958219T>C , CM000667.2:g.36958219T>C	GRCh38
NC_000005.9:g.36958321T>C , CM000667.1:g.36958321T>C	GRCh37
NC_000005.8:g.36994078T>C	NCBI36
NG_006987.1:g.86337T>C
NG_006987.2:g.86337T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.346T>C MANE Select	ENSP00000282516.8:p.Tyr116His
ENST00000652901.1:c.346T>C	ENSP00000499536.1:p.Tyr116His
ENST00000282516.12:c.346T>C	ENSP00000282516.8:p.Tyr116His
ENST00000448238.2:c.346T>C	ENSP00000406266.2:p.Tyr116His
ENST00000505998.5:n.325T>C
ENST00000621733.1:c.-1+81197T>C	ENSP00000480694.1:n.-1+81197T>C
NM_015384.4:c.346T>C	NP_056199.2:p.Tyr116His
NM_133433.3:c.346T>C	NP_597677.2:p.Tyr116His
XM_005248280.2:c.346T>C	XP_005248337.1:p.Tyr116His
XM_006714467.2:c.346T>C	XP_006714530.1:p.Tyr116His
XM_006714468.1:c.346T>C	XP_006714531.1:p.Tyr116His
XM_011514014.1:c.346T>C	XP_011512316.1:p.Tyr116His
XM_011514015.1:c.346T>C	XP_011512317.1:p.Tyr116His
XM_005248280.3:c.346T>C	XP_005248337.1:p.Tyr116His
XM_006714468.2:c.346T>C	XP_006714531.1:p.Tyr116His
XM_017009329.1:c.346T>C	XP_016864818.1:p.Tyr116His
XM_017009331.1:c.346T>C	XP_016864820.1:p.Tyr116His
NM_133433.4:c.346T>C MANE Select	NP_597677.2:p.Tyr116His
NM_015384.5:c.346T>C	NP_056199.2:p.Tyr116His