Canonical Allele Identifier: CA387205567

Gene: SCARB1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124778493C>G , CM000674.2:g.124778493C>G	GRCh38
NC_000012.11:g.125263039C>G , CM000674.1:g.125263039C>G	GRCh37
NC_000012.10:g.123828992C>G	NCBI36
NG_028199.1:g.90481G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005505.5:c.*94G>C MANE Select	NP_005496.4:n.*94G>C
ENST00000261693.11:c.*94G>C MANE Select	ENSP00000261693.6:n.*94G>C
NM_001082959.1:c.1495G>C	NP_001076428.1:p.Gly499Arg
NM_001082959.2:c.1495G>C	NP_001076428.1:p.Gly499Arg
NM_001367981.1:c.*86G>C	NP_001354910.1:n.*86G>C
NM_001367983.1:c.*94G>C	NP_001354912.1:n.*94G>C
NM_001367984.1:c.*94G>C	NP_001354913.1:n.*94G>C
NM_001367985.1:c.*94G>C	NP_001354914.1:n.*94G>C
NM_001367986.1:c.*94G>C	NP_001354915.1:n.*94G>C
NM_001367987.1:c.1297G>C	NP_001354916.1:p.Gly433Arg
NM_001367988.1:c.*94G>C	NP_001354917.1:n.*94G>C
NM_001367989.1:c.*105G>C	NP_001354918.1:n.*105G>C
NM_005505.4:c.*94G>C	NP_005496.4:n.*94G>C
NR_160416.1:n.1769G>C
NR_160417.1:n.1871G>C
NR_160418.1:n.1330G>C
NR_160419.1:n.1694G>C
NR_160420.1:n.1523G>C
NR_160421.1:n.1446G>C
NR_160422.1:n.1652G>C
NR_160423.1:n.1649G>C
NR_160424.1:n.1634G>C
ENST00000261693.10:c.*94G>C	ENSP00000261693.6:n.*94G>C
ENST00000339570.9:c.1495G>C	ENSP00000343795.4:p.Gly499Arg
ENST00000415380.6:c.*86G>C	ENSP00000414979.2:n.*86G>C
ENST00000538291.5:n.5312G>C
ENST00000545305.1:n.231G>C
ENST00000679605.1:c.*421G>C	ENSP00000505370.1:n.*421G>C
ENST00000680556.1:c.1297G>C	ENSP00000505757.1:p.Gly433Arg
ENST00000680596.1:c.1471G>C	ENSP00000505605.1:p.Gly491Arg
ENST00000680926.1:c.*443G>C	ENSP00000505571.1:n.*443G>C
ENST00000680982.1:c.*1478G>C	ENSP00000506281.1:n.*1478G>C
ENST00000681117.1:c.*743G>C	ENSP00000506693.1:n.*743G>C
ENST00000681499.1:n.1497G>C
ENST00000681555.1:n.1185G>C
ENST00000681686.1:c.*501G>C	ENSP00000505406.1:n.*501G>C
ENST00000681788.1:n.2144G>C