Canonical Allele Identifier: CA13698777

Gene: SCARB1

Linked Data

• dbSNP Id: rs838880
• gnomAD v2: 12-125261593-C-T
• gnomAD v3: 12-124777047-C-T
• gnomAD v4: 12-124777047-C-T
• MyVariant Identifiers: chr12:g.125261593C>T (hg19) ; chr12:g.124777047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124777047C>T , CM000674.2:g.124777047C>T	GRCh38
NC_000012.11:g.125261593C>T , CM000674.1:g.125261593C>T	GRCh37
NC_000012.10:g.123827546C>T	NCBI36
NG_028199.1:g.91927G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261693.11:c.*1540G>A MANE Select	ENSP00000261693.6:n.*1540G>A
ENST00000339570.9:c.*1420G>A	ENSP00000343795.4:n.*1420G>A
NM_005505.5:c.*1540G>A MANE Select	NP_005496.4:n.*1540G>A
NM_001082959.2:c.*1420G>A	NP_001076428.1:n.*1420G>A
NM_001367981.1:c.*1532G>A	NP_001354910.1:n.*1532G>A
NM_001367983.1:c.*1540G>A	NP_001354912.1:n.*1540G>A
NM_001367984.1:c.*1540G>A	NP_001354913.1:n.*1540G>A
NM_001367985.1:c.*1540G>A	NP_001354914.1:n.*1540G>A
NM_001367986.1:c.*1540G>A	NP_001354915.1:n.*1540G>A
NM_001367987.1:c.*1420G>A	NP_001354916.1:n.*1420G>A
NM_001367988.1:c.*1540G>A	NP_001354917.1:n.*1540G>A
NM_001367989.1:c.*1551G>A	NP_001354918.1:n.*1551G>A
NR_160416.1:n.3215G>A
NR_160417.1:n.3317G>A
NR_160418.1:n.2776G>A
NR_160419.1:n.3140G>A
NR_160420.1:n.2969G>A
NR_160421.1:n.2892G>A
NR_160422.1:n.3098G>A
NR_160423.1:n.3095G>A
NR_160424.1:n.3080G>A