Canonical Allele Identifier: CA2621767690

Gene: SCARB1

Linked Data

• gnomAD v4: 12-124776911-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776911G>T , CM000674.2:g.124776911G>T	GRCh38
NC_000012.11:g.125261457G>T , CM000674.1:g.125261457G>T	GRCh37
NC_000012.10:g.123827410G>T	NCBI36
NG_028199.1:g.92063C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1676C>A MANE Select	ENSP00000261693.6:n.*1676C>A
ENST00000339570.9:c.*1556C>A	ENSP00000343795.4:n.*1556C>A
NM_005505.5:c.*1676C>A MANE Select	NP_005496.4:n.*1676C>A
NM_001082959.2:c.*1556C>A	NP_001076428.1:n.*1556C>A
NM_001367981.1:c.*1668C>A	NP_001354910.1:n.*1668C>A
NM_001367983.1:c.*1676C>A	NP_001354912.1:n.*1676C>A
NM_001367984.1:c.*1676C>A	NP_001354913.1:n.*1676C>A
NM_001367985.1:c.*1676C>A	NP_001354914.1:n.*1676C>A
NM_001367986.1:c.*1676C>A	NP_001354915.1:n.*1676C>A
NM_001367987.1:c.*1556C>A	NP_001354916.1:n.*1556C>A
NM_001367988.1:c.*1676C>A	NP_001354917.1:n.*1676C>A
NM_001367989.1:c.*1687C>A	NP_001354918.1:n.*1687C>A
NR_160416.1:n.3351C>A
NR_160417.1:n.3453C>A
NR_160418.1:n.2912C>A
NR_160419.1:n.3276C>A
NR_160420.1:n.3105C>A
NR_160421.1:n.3028C>A
NR_160422.1:n.3234C>A
NR_160423.1:n.3231C>A
NR_160424.1:n.3216C>A