Canonical Allele Identifier: CA6870571

Gene: SCARB1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124814996C>T , CM000674.2:g.124814996C>T	GRCh38
NC_000012.11:g.125299542C>T , CM000674.1:g.125299542C>T	GRCh37
NC_000012.10:g.123865495C>T	NCBI36
NG_028199.1:g.53978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.403G>A MANE Select	ENSP00000261693.6:p.Val135Ile
ENST00000539320.3:n.636G>A
ENST00000679605.1:c.403G>A	ENSP00000505370.1:p.Val135Ile
ENST00000680556.1:c.403G>A	ENSP00000505757.1:p.Val135Ile
ENST00000680596.1:c.403G>A	ENSP00000505605.1:p.Val135Ile
ENST00000680926.1:c.403G>A	ENSP00000505571.1:p.Val135Ile
ENST00000680982.1:c.*386G>A	ENSP00000506281.1:n.*386G>A
ENST00000681117.1:c.403G>A	ENSP00000506693.1:p.Val135Ile
ENST00000681499.1:n.276G>A
ENST00000681686.1:c.403G>A	ENSP00000505406.1:p.Val135Ile
ENST00000261693.10:c.403G>A	ENSP00000261693.6:p.Val135Ile
ENST00000339570.9:c.403G>A	ENSP00000343795.4:p.Val135Ile
ENST00000415380.6:c.403G>A	ENSP00000414979.2:p.Val135Ile
ENST00000535005.5:n.718G>A
ENST00000538291.5:n.546G>A
ENST00000539320.2:n.697G>A
ENST00000541661.5:n.444G>A
ENST00000544327.1:c.241G>A	ENSP00000444851.1:p.Val81Ile
ENST00000545493.1:c.403G>A	ENSP00000443454.1:p.Val135Ile
ENST00000546215.5:c.403G>A	ENSP00000442862.1:p.Val135Ile
NM_001082959.1:c.403G>A	NP_001076428.1:p.Val135Ile
NM_005505.4:c.403G>A	NP_005496.4:p.Val135Ile
NM_005505.5:c.403G>A MANE Select	NP_005496.4:p.Val135Ile
NM_001082959.2:c.403G>A	NP_001076428.1:p.Val135Ile
NM_001367981.1:c.403G>A	NP_001354910.1:p.Val135Ile
NM_001367982.1:c.280G>A	NP_001354911.1:p.Val94Ile
NM_001367983.1:c.403G>A	NP_001354912.1:p.Val135Ile
NM_001367984.1:c.403G>A	NP_001354913.1:p.Val135Ile
NM_001367985.1:c.403G>A	NP_001354914.1:p.Val135Ile
NM_001367986.1:c.403G>A	NP_001354915.1:p.Val135Ile
NM_001367987.1:c.403G>A	NP_001354916.1:p.Val135Ile
NM_001367988.1:c.403G>A	NP_001354917.1:p.Val135Ile
NM_001367989.1:c.403G>A	NP_001354918.1:p.Val135Ile
NR_160416.1:n.547G>A
NR_160417.1:n.547G>A
NR_160418.1:n.547G>A
NR_160419.1:n.547G>A
NR_160420.1:n.547G>A
NR_160421.1:n.547G>A
NR_160422.1:n.547G>A
NR_160423.1:n.547G>A
NR_160424.1:n.547G>A