Canonical Allele Identifier: CA952891992

Gene: SCARB1

Linked Data

• dbSNP Id: rs1872522507
• gnomAD v3: 12-124776860-C-T
• gnomAD v4: 12-124776860-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776860C>T , CM000674.2:g.124776860C>T	GRCh38
NC_000012.11:g.125261406C>T , CM000674.1:g.125261406C>T	GRCh37
NC_000012.10:g.123827359C>T	NCBI36
NG_028199.1:g.92114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1727G>A MANE Select	ENSP00000261693.6:n.*1727G>A
ENST00000339570.9:c.*1607G>A	ENSP00000343795.4:n.*1607G>A
NM_005505.5:c.*1727G>A MANE Select	NP_005496.4:n.*1727G>A
NM_001082959.2:c.*1607G>A	NP_001076428.1:n.*1607G>A
NM_001367981.1:c.*1719G>A	NP_001354910.1:n.*1719G>A
NM_001367983.1:c.*1727G>A	NP_001354912.1:n.*1727G>A
NM_001367984.1:c.*1727G>A	NP_001354913.1:n.*1727G>A
NM_001367985.1:c.*1727G>A	NP_001354914.1:n.*1727G>A
NM_001367986.1:c.*1727G>A	NP_001354915.1:n.*1727G>A
NM_001367987.1:c.*1607G>A	NP_001354916.1:n.*1607G>A
NM_001367988.1:c.*1727G>A	NP_001354917.1:n.*1727G>A
NM_001367989.1:c.*1738G>A	NP_001354918.1:n.*1738G>A
NR_160416.1:n.3402G>A
NR_160417.1:n.3504G>A
NR_160418.1:n.2963G>A
NR_160419.1:n.3327G>A
NR_160420.1:n.3156G>A
NR_160421.1:n.3079G>A
NR_160422.1:n.3285G>A
NR_160423.1:n.3282G>A
NR_160424.1:n.3267G>A