Canonical Allele Identifier: CA359519069

Gene: NIPBL

Linked Data

• MyVariant Identifiers: chr5:g.37061083A>C (hg19) ; chr5:g.37060981A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060981A>C , CM000667.2:g.37060981A>C	GRCh38
NC_000005.9:g.37061083A>C , CM000667.1:g.37061083A>C	GRCh37
NC_000005.8:g.37096840A>C	NCBI36
NG_006987.1:g.189099A>C
NG_006987.2:g.189099A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7823A>C MANE Select	ENSP00000282516.8:p.Glu2608Ala
ENST00000652901.1:c.7676A>C	ENSP00000499536.1:p.Glu2559Ala
ENST00000282516.12:c.7823A>C	ENSP00000282516.8:p.Glu2608Ala
ENST00000448238.2:c.7823A>C	ENSP00000406266.2:p.Glu2608Ala
ENST00000513819.1:c.263+1816A>C	ENSP00000421504.1:n.263+1816A>C
ENST00000514335.1:n.1705A>C
ENST00000621733.1:c.1-3597A>C	ENSP00000480694.1:n.1-3597A>C
NM_015384.4:c.7823A>C	NP_056199.2:p.Glu2608Ala
NM_133433.3:c.7823A>C	NP_597677.2:p.Glu2608Ala
XM_005248280.2:c.7823A>C	XP_005248337.1:p.Glu2608Ala
XM_005248282.3:c.7079A>C	XP_005248339.2:p.Glu2360Ala
XM_006714467.2:c.7676A>C	XP_006714530.1:p.Glu2559Ala
XM_006714468.1:c.7625A>C	XP_006714531.1:p.Glu2542Ala
XM_011514014.1:c.7442A>C	XP_011512316.1:p.Glu2481Ala
XM_005248280.3:c.7823A>C	XP_005248337.1:p.Glu2608Ala
XM_005248282.5:c.7163A>C	XP_005248339.3:p.Glu2388Ala
XM_006714468.2:c.7625A>C	XP_006714531.1:p.Glu2542Ala
XM_017009329.1:c.7676A>C	XP_016864818.1:p.Glu2559Ala
XM_017009330.2:c.6206A>C	XP_016864819.1:p.Glu2069Ala
XM_017009331.1:c.6197A>C	XP_016864820.1:p.Glu2066Ala
NM_133433.4:c.7823A>C MANE Select	NP_597677.2:p.Glu2608Ala
NM_015384.5:c.7823A>C	NP_056199.2:p.Glu2608Ala