Canonical Allele Identifier: CA245245678

Gene: SCARB1

Linked Data

• dbSNP Id: rs952485388
• gnomAD v3: 12-124776968-A-G
• gnomAD v4: 12-124776968-A-G
• MyVariant Identifiers: chr12:g.125261514A>G (hg19) ; chr12:g.124776968A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776968A>G , CM000674.2:g.124776968A>G	GRCh38
NC_000012.11:g.125261514A>G , CM000674.1:g.125261514A>G	GRCh37
NC_000012.10:g.123827467A>G	NCBI36
NG_028199.1:g.92006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1619T>C MANE Select	ENSP00000261693.6:n.*1619T>C
ENST00000339570.9:c.*1499T>C	ENSP00000343795.4:n.*1499T>C
NM_005505.5:c.*1619T>C MANE Select	NP_005496.4:n.*1619T>C
NM_001082959.2:c.*1499T>C	NP_001076428.1:n.*1499T>C
NM_001367981.1:c.*1611T>C	NP_001354910.1:n.*1611T>C
NM_001367983.1:c.*1619T>C	NP_001354912.1:n.*1619T>C
NM_001367984.1:c.*1619T>C	NP_001354913.1:n.*1619T>C
NM_001367985.1:c.*1619T>C	NP_001354914.1:n.*1619T>C
NM_001367986.1:c.*1619T>C	NP_001354915.1:n.*1619T>C
NM_001367987.1:c.*1499T>C	NP_001354916.1:n.*1499T>C
NM_001367988.1:c.*1619T>C	NP_001354917.1:n.*1619T>C
NM_001367989.1:c.*1630T>C	NP_001354918.1:n.*1630T>C
NR_160416.1:n.3294T>C
NR_160417.1:n.3396T>C
NR_160418.1:n.2855T>C
NR_160419.1:n.3219T>C
NR_160420.1:n.3048T>C
NR_160421.1:n.2971T>C
NR_160422.1:n.3177T>C
NR_160423.1:n.3174T>C
NR_160424.1:n.3159T>C