Canonical Allele Identifier: CA1637601

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875372T>C , CM000664.2:g.43875372T>C	GRCh38
NC_000002.11:g.44102511T>C , CM000664.1:g.44102511T>C	GRCh37
NC_000002.10:g.43956015T>C	NCBI36
NG_008884.1:g.41409T>C
NG_008884.2:g.48431T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1715T>C MANE Select	NP_071882.1:p.Leu572Pro
ENST00000272286.4:c.1715T>C MANE Select	ENSP00000272286.2:p.Leu572Pro
NM_001357321.1:c.1712T>C	NP_001344250.1:p.Leu571Pro
NM_001357321.2:c.1712T>C	NP_001344250.1:p.Leu571Pro
NM_022437.2:c.1715T>C	NP_071882.1:p.Leu572Pro
ENST00000272286.2:c.1715T>C	ENSP00000272286.2:p.Leu572Pro
XM_005264483.2:c.1712T>C	XP_005264540.1:p.Leu571Pro
XM_011533029.1:c.1727T>C	XP_011531331.1:p.Leu576Pro
XM_011533029.2:c.1727T>C	XP_011531331.1:p.Leu576Pro
XM_011533030.1:c.1724T>C	XP_011531332.1:p.Leu575Pro
XM_011533030.2:c.1724T>C	XP_011531332.1:p.Leu575Pro
XM_011533031.1:c.1499T>C	XP_011531333.1:p.Leu500Pro
XR_001738891.1:n.2231T>C
XR_939707.1:n.2217T>C
XR_939707.2:n.2231T>C