Canonical Allele Identifier: CA15728561

Gene: SCARB1

Linked Data

• dbSNP Id: rs838879
• gnomAD v2: 12-125261441-G-A
• gnomAD v3: 12-124776895-G-A
• gnomAD v4: 12-124776895-G-A
• MyVariant Identifiers: chr12:g.125261441G>A (hg19) ; chr12:g.124776895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776895G>A , CM000674.2:g.124776895G>A	GRCh38
NC_000012.11:g.125261441G>A , CM000674.1:g.125261441G>A	GRCh37
NC_000012.10:g.123827394G>A	NCBI36
NG_028199.1:g.92079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1692C>T MANE Select	ENSP00000261693.6:n.*1692C>T
ENST00000339570.9:c.*1572C>T	ENSP00000343795.4:n.*1572C>T
NM_005505.5:c.*1692C>T MANE Select	NP_005496.4:n.*1692C>T
NM_001082959.2:c.*1572C>T	NP_001076428.1:n.*1572C>T
NM_001367981.1:c.*1684C>T	NP_001354910.1:n.*1684C>T
NM_001367983.1:c.*1692C>T	NP_001354912.1:n.*1692C>T
NM_001367984.1:c.*1692C>T	NP_001354913.1:n.*1692C>T
NM_001367985.1:c.*1692C>T	NP_001354914.1:n.*1692C>T
NM_001367986.1:c.*1692C>T	NP_001354915.1:n.*1692C>T
NM_001367987.1:c.*1572C>T	NP_001354916.1:n.*1572C>T
NM_001367988.1:c.*1692C>T	NP_001354917.1:n.*1692C>T
NM_001367989.1:c.*1703C>T	NP_001354918.1:n.*1703C>T
NR_160416.1:n.3367C>T
NR_160417.1:n.3469C>T
NR_160418.1:n.2928C>T
NR_160419.1:n.3292C>T
NR_160420.1:n.3121C>T
NR_160421.1:n.3044C>T
NR_160422.1:n.3250C>T
NR_160423.1:n.3247C>T
NR_160424.1:n.3232C>T