Canonical Allele Identifier: CA6870324

Gene: SCARB1

Linked Data

• dbSNP Id: rs530132398
• ExAC: 12:125284648 A / C
• gnomAD v2: 12-125284648-A-C
• gnomAD v3: 12-124800102-A-C
• gnomAD v4: 12-124800102-A-C
• MyVariant Identifiers: chr12:g.125284648A>C (hg19) ; chr12:g.124800102A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124800102A>C , CM000674.2:g.124800102A>C	GRCh38
NC_000012.11:g.125284648A>C , CM000674.1:g.125284648A>C	GRCh37
NC_000012.10:g.123850601A>C	NCBI36
NG_028199.1:g.68872T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261693.11:c.1128+22T>G MANE Select	ENSP00000261693.6:n.1128+22T>G
ENST00000679605.1:c.*128+7659T>G	ENSP00000505370.1:n.*128+7659T>G
ENST00000679955.1:n.2852+22T>G
ENST00000680556.1:c.1004+7664T>G	ENSP00000505757.1:n.1004+7664T>G
ENST00000680596.1:c.1104+22T>G	ENSP00000505605.1:n.1104+22T>G
ENST00000680926.1:c.*76+22T>G	ENSP00000505571.1:n.*76+22T>G
ENST00000680982.1:c.*1111+22T>G	ENSP00000506281.1:n.*1111+22T>G
ENST00000681117.1:c.*247+22T>G	ENSP00000506693.1:n.*247+22T>G
ENST00000681499.1:n.1001+22T>G
ENST00000681555.1:n.818+22T>G
ENST00000681686.1:c.1128+22T>G	ENSP00000505406.1:n.1128+22T>G
ENST00000261693.10:c.1128+22T>G	ENSP00000261693.6:n.1128+22T>G
ENST00000339570.9:c.1128+22T>G	ENSP00000343795.4:n.1128+22T>G
ENST00000415380.6:c.1128+22T>G	ENSP00000414979.2:n.1128+22T>G
ENST00000535005.5:n.1443+22T>G
ENST00000538291.5:n.1271+22T>G
ENST00000544327.1:c.966+22T>G	ENSP00000444851.1:n.966+22T>G
ENST00000546215.5:c.1128+22T>G	ENSP00000442862.1:n.1128+22T>G
NM_001082959.1:c.1128+22T>G	NP_001076428.1:n.1128+22T>G
NM_005505.4:c.1128+22T>G	NP_005496.4:n.1128+22T>G
NM_005505.5:c.1128+22T>G MANE Select	NP_005496.4:n.1128+22T>G
NM_001082959.2:c.1128+22T>G	NP_001076428.1:n.1128+22T>G
NM_001367981.1:c.1128+22T>G	NP_001354910.1:n.1128+22T>G
NM_001367982.1:c.1005+22T>G	NP_001354911.1:n.1005+22T>G
NM_001367983.1:c.1128+22T>G	NP_001354912.1:n.1128+22T>G
NM_001367984.1:c.1128+22T>G	NP_001354913.1:n.1128+22T>G
NM_001367985.1:c.1104+22T>G	NP_001354914.1:n.1104+22T>G
NM_001367986.1:c.1128+22T>G	NP_001354915.1:n.1128+22T>G
NM_001367987.1:c.1004+7664T>G	NP_001354916.1:n.1004+7664T>G
NM_001367988.1:c.727-4834T>G	NP_001354917.1:n.727-4834T>G
NM_001367989.1:c.1128+22T>G	NP_001354918.1:n.1128+22T>G
NR_160416.1:n.1272+22T>G
NR_160417.1:n.1272+22T>G
NR_160418.1:n.1037+7659T>G
NR_160419.1:n.1272+22T>G
NR_160420.1:n.1156+22T>G
NR_160421.1:n.1153+7659T>G
NR_160422.1:n.1156+22T>G
NR_160423.1:n.1154-4834T>G
NR_160424.1:n.1267+22T>G