Canonical Allele Identifier: CA2621767694

Gene: SCARB1

Linked Data

• gnomAD v4: 12-124776918-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776918A>C , CM000674.2:g.124776918A>C	GRCh38
NC_000012.11:g.125261464A>C , CM000674.1:g.125261464A>C	GRCh37
NC_000012.10:g.123827417A>C	NCBI36
NG_028199.1:g.92056T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1669T>G MANE Select	ENSP00000261693.6:n.*1669T>G
ENST00000339570.9:c.*1549T>G	ENSP00000343795.4:n.*1549T>G
NM_005505.5:c.*1669T>G MANE Select	NP_005496.4:n.*1669T>G
NM_001082959.2:c.*1549T>G	NP_001076428.1:n.*1549T>G
NM_001367981.1:c.*1661T>G	NP_001354910.1:n.*1661T>G
NM_001367983.1:c.*1669T>G	NP_001354912.1:n.*1669T>G
NM_001367984.1:c.*1669T>G	NP_001354913.1:n.*1669T>G
NM_001367985.1:c.*1669T>G	NP_001354914.1:n.*1669T>G
NM_001367986.1:c.*1669T>G	NP_001354915.1:n.*1669T>G
NM_001367987.1:c.*1549T>G	NP_001354916.1:n.*1549T>G
NM_001367988.1:c.*1669T>G	NP_001354917.1:n.*1669T>G
NM_001367989.1:c.*1680T>G	NP_001354918.1:n.*1680T>G
NR_160416.1:n.3344T>G
NR_160417.1:n.3446T>G
NR_160418.1:n.2905T>G
NR_160419.1:n.3269T>G
NR_160420.1:n.3098T>G
NR_160421.1:n.3021T>G
NR_160422.1:n.3227T>G
NR_160423.1:n.3224T>G
NR_160424.1:n.3209T>G