Canonical Allele Identifier: CA425908124

Gene: ABCG8

Linked Data

• dbSNP Id: rs1669916372
• MyVariant Identifiers: chr2:g.44102299T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875160T>C , CM000664.2:g.43875160T>C	GRCh38
NC_000002.11:g.44102299T>C , CM000664.1:g.44102299T>C	GRCh37
NC_000002.10:g.43955803T>C	NCBI36
NG_008884.1:g.41197T>C
NG_008884.2:g.48219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1503T>C MANE Select	ENSP00000272286.2:p.Leu501=
ENST00000272286.2:c.1503T>C	ENSP00000272286.2:p.Leu501=
NM_022437.2:c.1503T>C	NP_071882.1:p.Leu501=
XM_005264483.2:c.1500T>C	XP_005264540.1:p.Leu500=
XM_011533029.1:c.1515T>C	XP_011531331.1:p.Leu505=
XM_011533030.1:c.1512T>C	XP_011531332.1:p.Leu504=
XM_011533031.1:c.1287T>C	XP_011531333.1:p.Leu429=
XR_939707.1:n.2005T>C
NM_001357321.1:c.1500T>C	NP_001344250.1:p.Leu500=
XM_011533029.2:c.1515T>C	XP_011531331.1:p.Leu505=
XM_011533030.2:c.1512T>C	XP_011531332.1:p.Leu504=
XR_001738891.1:n.2019T>C
XR_939707.2:n.2019T>C
NM_022437.3:c.1503T>C MANE Select	NP_071882.1:p.Leu501=
NM_001357321.2:c.1500T>C	NP_001344250.1:p.Leu500=