Canonical Allele Identifier: CA357326725

Gene: SCARB2

Linked Data

• gnomAD v4: 4-76179556-G-T
• MyVariant Identifiers: chr4:g.77100709G>T (hg19) ; chr4:g.76179556G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179556G>T , CM000666.2:g.76179556G>T	GRCh38
NC_000004.11:g.77100709G>T , CM000666.1:g.77100709G>T	GRCh37
NC_000004.10:g.77319733G>T	NCBI36
NG_012054.1:g.39327C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.549C>A
ENST00000264896.8:c.573C>A MANE Select	ENSP00000264896.2:p.Phe191Leu
ENST00000502908.2:n.2074C>A
ENST00000638295.1:c.99C>A	ENSP00000492288.1:p.Phe33Leu
ENST00000638372.1:n.825C>A
ENST00000638603.1:c.573C>A	ENSP00000491728.1:p.Phe191Leu
ENST00000638663.1:c.573C>A	ENSP00000491407.1:p.Phe191Leu
ENST00000638680.1:n.2154C>A
ENST00000639145.1:c.564C>A	ENSP00000492831.1:p.Phe188Leu
ENST00000639300.1:c.573C>A	ENSP00000492840.1:p.Phe191Leu
ENST00000639324.1:n.672C>A
ENST00000639715.1:c.528C>A
ENST00000639738.1:c.276-13255C>A	ENSP00000491792.1:n.276-13255C>A
ENST00000640076.1:n.154C>A
ENST00000640341.1:c.*213C>A	ENSP00000492714.1:n.*213C>A
ENST00000640634.1:c.694C>A
ENST00000640640.1:c.573C>A	ENSP00000492246.1:p.Phe191Leu
ENST00000640916.1:n.501C>A
ENST00000640957.1:c.573C>A	ENSP00000492004.1:p.Phe191Leu
ENST00000264896.6:c.573C>A	ENSP00000264896.2:p.Phe191Leu
ENST00000452464.6:c.276-3646C>A	ENSP00000399154.2:n.276-3646C>A
NM_001204255.1:c.276-3646C>A	NP_001191184.1:n.276-3646C>A
NM_005506.3:c.573C>A	NP_005497.1:p.Phe191Leu
NM_005506.4:c.573C>A MANE Select	NP_005497.1:p.Phe191Leu
NM_001204255.2:c.276-3646C>A	NP_001191184.1:n.276-3646C>A