Canonical Allele Identifier: CA2493965017

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877591T= , CM000664.2:g.43877591T=	GRCh38
NC_000002.11:g.44104730T= , CM000664.1:g.44104730T=	GRCh37
NC_000002.10:g.43958234T=	NCBI36
NG_008884.1:g.43628T=
NG_008884.2:g.50650T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1787T= MANE Select	ENSP00000272286.2:p.Leu596=
ENST00000272286.2:c.1787T=	ENSP00000272286.2:p.Leu596=
NM_022437.2:c.1787T=	NP_071882.1:p.Leu596=
XM_005264483.2:c.1784T=	XP_005264540.1:p.Leu595=
XM_011533029.1:c.1799T=	XP_011531331.1:p.Leu600=
XM_011533030.1:c.1796T=	XP_011531332.1:p.Leu599=
XM_011533031.1:c.1571T=	XP_011531333.1:p.Leu524=
XR_939707.1:n.2289T=
NM_001357321.1:c.1784T=	NP_001344250.1:p.Leu595=
XM_011533029.2:c.1799T=	XP_011531331.1:p.Leu600=
XM_011533030.2:c.1796T=	XP_011531332.1:p.Leu599=
XR_001738891.1:n.2303T=
XR_939707.2:n.2303T=
NM_022437.3:c.1787T= MANE Select	NP_071882.1:p.Leu596=
NM_001357321.2:c.1784T=	NP_001344250.1:p.Leu595=