Canonical Allele Identifier: CA357326686

Gene: SCARB2

Linked Data

• dbSNP Id: rs1412425488
• MyVariant Identifiers: chr4:g.77100692G>A (hg19) ; chr4:g.76179539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179539G>A , CM000666.2:g.76179539G>A	GRCh38
NC_000004.11:g.77100692G>A , CM000666.1:g.77100692G>A	GRCh37
NC_000004.10:g.77319716G>A	NCBI36
NG_012054.1:g.39344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.566C>T
ENST00000264896.8:c.590C>T MANE Select	ENSP00000264896.2:p.Pro197Leu
ENST00000502908.2:n.2091C>T
ENST00000638295.1:c.116C>T	ENSP00000492288.1:p.Pro39Leu
ENST00000638372.1:n.842C>T
ENST00000638603.1:c.590C>T	ENSP00000491728.1:p.Pro197Leu
ENST00000638663.1:c.590C>T	ENSP00000491407.1:p.Pro197Leu
ENST00000638680.1:n.2171C>T
ENST00000639145.1:c.581C>T	ENSP00000492831.1:p.Pro194Leu
ENST00000639300.1:c.590C>T	ENSP00000492840.1:p.Pro197Leu
ENST00000639324.1:n.689C>T
ENST00000639715.1:c.545C>T
ENST00000639738.1:c.276-13238C>T	ENSP00000491792.1:n.276-13238C>T
ENST00000640076.1:n.171C>T
ENST00000640341.1:c.*230C>T	ENSP00000492714.1:n.*230C>T
ENST00000640634.1:c.711C>T
ENST00000640640.1:c.590C>T	ENSP00000492246.1:p.Pro197Leu
ENST00000640916.1:n.518C>T
ENST00000640957.1:c.590C>T	ENSP00000492004.1:p.Pro197Leu
ENST00000264896.6:c.590C>T	ENSP00000264896.2:p.Pro197Leu
ENST00000452464.6:c.276-3629C>T	ENSP00000399154.2:n.276-3629C>T
NM_001204255.1:c.276-3629C>T	NP_001191184.1:n.276-3629C>T
NM_005506.3:c.590C>T	NP_005497.1:p.Pro197Leu
NM_005506.4:c.590C>T MANE Select	NP_005497.1:p.Pro197Leu
NM_001204255.2:c.276-3629C>T	NP_001191184.1:n.276-3629C>T