Canonical Allele Identifier: CA443903874

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.36995725T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995623T>A , CM000667.2:g.36995623T>A	GRCh38
NC_000005.9:g.36995725T>A , CM000667.1:g.36995725T>A	GRCh37
NC_000005.8:g.37031482T>A	NCBI36
NG_006987.1:g.123741T>A
NG_006987.2:g.123741T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3123T>A MANE Select	ENSP00000282516.8:p.Gly1041=
ENST00000652901.1:c.3123T>A	ENSP00000499536.1:p.Gly1041=
ENST00000282516.12:c.3123T>A	ENSP00000282516.8:p.Gly1041=
ENST00000448238.2:c.3123T>A	ENSP00000406266.2:p.Gly1041=
ENST00000503274.1:n.474T>A
ENST00000504430.5:n.2743T>A
ENST00000621733.1:c.1-68955T>A	ENSP00000480694.1:n.1-68955T>A
NM_015384.4:c.3123T>A	NP_056199.2:p.Gly1041=
NM_133433.3:c.3123T>A	NP_597677.2:p.Gly1041=
XM_005248280.2:c.3123T>A	XP_005248337.1:p.Gly1041=
XM_005248282.3:c.2379T>A	XP_005248339.2:p.Gly793=
XM_006714467.2:c.3123T>A	XP_006714530.1:p.Gly1041=
XM_006714468.1:c.3123T>A	XP_006714531.1:p.Gly1041=
XM_011514014.1:c.3122-5194T>A	XP_011512316.1:n.3122-5194T>A
XM_011514015.1:c.3123T>A	XP_011512317.1:p.Gly1041=
XM_005248280.3:c.3123T>A	XP_005248337.1:p.Gly1041=
XM_005248282.5:c.2463T>A	XP_005248339.3:p.Gly821=
XM_006714468.2:c.3123T>A	XP_006714531.1:p.Gly1041=
XM_017009329.1:c.3123T>A	XP_016864818.1:p.Gly1041=
XM_017009330.2:c.1506T>A	XP_016864819.1:p.Gly502=
XM_017009331.1:c.1497T>A	XP_016864820.1:p.Gly499=
NM_133433.4:c.3123T>A MANE Select	NP_597677.2:p.Gly1041=
NM_015384.5:c.3123T>A	NP_056199.2:p.Gly1041=