Canonical Allele Identifier: CA357326879

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179625A>C , CM000666.2:g.76179625A>C	GRCh38
NC_000004.11:g.77100778A>C , CM000666.1:g.77100778A>C	GRCh37
NC_000004.10:g.77319802A>C	NCBI36
NG_012054.1:g.39258T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005506.4:c.504T>G MANE Select	NP_005497.1:p.Phe168Leu
ENST00000264896.8:c.504T>G MANE Select	ENSP00000264896.2:p.Phe168Leu
NM_001204255.1:c.276-3715T>G	NP_001191184.1:n.276-3715T>G
NM_001204255.2:c.276-3715T>G	NP_001191184.1:n.276-3715T>G
NM_005506.3:c.504T>G	NP_005497.1:p.Phe168Leu
ENST00000264896.6:c.504T>G	ENSP00000264896.2:p.Phe168Leu
ENST00000452464.6:c.276-3715T>G	ENSP00000399154.2:n.276-3715T>G
ENST00000502908.2:n.2005T>G
ENST00000638295.1:c.30T>G	ENSP00000492288.1:p.Phe10Leu
ENST00000638372.1:n.756T>G
ENST00000638603.1:c.504T>G	ENSP00000491728.1:p.Phe168Leu
ENST00000638663.1:c.504T>G	ENSP00000491407.1:p.Phe168Leu
ENST00000638680.1:n.2085T>G
ENST00000639145.1:c.495T>G	ENSP00000492831.1:p.Phe165Leu
ENST00000639300.1:c.504T>G	ENSP00000492840.1:p.Phe168Leu
ENST00000639324.1:n.603T>G
ENST00000639715.1:c.459T>G
ENST00000639738.1:c.276-13324T>G	ENSP00000491792.1:n.276-13324T>G
ENST00000640076.1:n.85T>G
ENST00000640341.1:c.*144T>G	ENSP00000492714.1:n.*144T>G
ENST00000640634.1:c.625T>G
ENST00000640640.1:c.504T>G	ENSP00000492246.1:p.Phe168Leu
ENST00000640916.1:n.432T>G
ENST00000640957.1:c.504T>G	ENSP00000492004.1:p.Phe168Leu
ENST00000682785.1:n.480T>G