Canonical Allele Identifier: CA444095717

Gene: NIPBL

Linked Data

• dbSNP Id: rs757081951
• COSMIC: COSM3947482 ; COSM3947483
• MyVariant Identifiers: chr5:g.36985379G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985277G>A , CM000667.2:g.36985277G>A	GRCh38
NC_000005.9:g.36985379G>A , CM000667.1:g.36985379G>A	GRCh37
NC_000005.8:g.37021136G>A	NCBI36
NG_006987.1:g.113395G>A
NG_006987.2:g.113395G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.2097G>A MANE Select	ENSP00000282516.8:p.Arg699=
ENST00000652901.1:c.2097G>A	ENSP00000499536.1:p.Arg699=
ENST00000282516.12:c.2097G>A	ENSP00000282516.8:p.Arg699=
ENST00000448238.2:c.2097G>A	ENSP00000406266.2:p.Arg699=
ENST00000504430.5:n.1717G>A
ENST00000621733.1:c.1-79301G>A	ENSP00000480694.1:n.1-79301G>A
NM_015384.4:c.2097G>A	NP_056199.2:p.Arg699=
NM_133433.3:c.2097G>A	NP_597677.2:p.Arg699=
XM_005248280.2:c.2097G>A	XP_005248337.1:p.Arg699=
XM_005248282.3:c.1353G>A	XP_005248339.2:p.Arg451=
XM_006714467.2:c.2097G>A	XP_006714530.1:p.Arg699=
XM_006714468.1:c.2097G>A	XP_006714531.1:p.Arg699=
XM_011514014.1:c.2097G>A	XP_011512316.1:p.Arg699=
XM_011514015.1:c.2097G>A	XP_011512317.1:p.Arg699=
XM_005248280.3:c.2097G>A	XP_005248337.1:p.Arg699=
XM_005248282.5:c.1437G>A	XP_005248339.3:p.Arg479=
XM_006714468.2:c.2097G>A	XP_006714531.1:p.Arg699=
XM_017009329.1:c.2097G>A	XP_016864818.1:p.Arg699=
XM_017009330.2:c.480G>A	XP_016864819.1:p.Arg160=
XM_017009331.1:c.1495+8875G>A	XP_016864820.1:n.1495+8875G>A
NM_133433.4:c.2097G>A MANE Select	NP_597677.2:p.Arg699=
NM_015384.5:c.2097G>A	NP_056199.2:p.Arg699=