Canonical Allele Identifier: CA245245634

Gene: SCARB1

Linked Data

• dbSNP Id: rs1020336154
• gnomAD v3: 12-124776868-T-C
• gnomAD v4: 12-124776868-T-C
• MyVariant Identifiers: chr12:g.125261414T>C (hg19) ; chr12:g.124776868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776868T>C , CM000674.2:g.124776868T>C	GRCh38
NC_000012.11:g.125261414T>C , CM000674.1:g.125261414T>C	GRCh37
NC_000012.10:g.123827367T>C	NCBI36
NG_028199.1:g.92106A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1719A>G MANE Select	ENSP00000261693.6:n.*1719A>G
ENST00000339570.9:c.*1599A>G	ENSP00000343795.4:n.*1599A>G
NM_005505.5:c.*1719A>G MANE Select	NP_005496.4:n.*1719A>G
NM_001082959.2:c.*1599A>G	NP_001076428.1:n.*1599A>G
NM_001367981.1:c.*1711A>G	NP_001354910.1:n.*1711A>G
NM_001367983.1:c.*1719A>G	NP_001354912.1:n.*1719A>G
NM_001367984.1:c.*1719A>G	NP_001354913.1:n.*1719A>G
NM_001367985.1:c.*1719A>G	NP_001354914.1:n.*1719A>G
NM_001367986.1:c.*1719A>G	NP_001354915.1:n.*1719A>G
NM_001367987.1:c.*1599A>G	NP_001354916.1:n.*1599A>G
NM_001367988.1:c.*1719A>G	NP_001354917.1:n.*1719A>G
NM_001367989.1:c.*1730A>G	NP_001354918.1:n.*1730A>G
NR_160416.1:n.3394A>G
NR_160417.1:n.3496A>G
NR_160418.1:n.2955A>G
NR_160419.1:n.3319A>G
NR_160420.1:n.3148A>G
NR_160421.1:n.3071A>G
NR_160422.1:n.3277A>G
NR_160423.1:n.3274A>G
NR_160424.1:n.3259A>G