Canonical Allele Identifier: CA6870326

Gene: SCARB1

Linked Data

• ClinVar Variation Id: 253091
• ClinVar RCV Id: RCV000239517
• dbSNP Id: rs74830677
• ExAC: 12:125284671 G / A
• gnomAD v2: 12-125284671-G-A
• gnomAD v3: 12-124800125-G-A
• gnomAD v4: 12-124800125-G-A
• COSMIC: COSM936766 ; COSM3688040
• MyVariant Identifiers: chr12:g.125284671G>A (hg19) ; chr12:g.124800125G>A (hg38)
• PubMed: PMID:26965621

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124800125G>A , CM000674.2:g.124800125G>A	GRCh38
NC_000012.11:g.125284671G>A , CM000674.1:g.125284671G>A	GRCh37
NC_000012.10:g.123850624G>A	NCBI36
NG_028199.1:g.68849C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261693.11:c.1127C>T MANE Select	ENSP00000261693.6:p.Pro376Leu
ENST00000679605.1:c.*128+7636C>T	ENSP00000505370.1:n.*128+7636C>T
ENST00000679955.1:n.2851C>T
ENST00000680556.1:c.1004+7641C>T	ENSP00000505757.1:n.1004+7641C>T
ENST00000680596.1:c.1103C>T	ENSP00000505605.1:p.Pro368Leu
ENST00000680926.1:c.*75C>T	ENSP00000505571.1:n.*75C>T
ENST00000680982.1:c.*1110C>T	ENSP00000506281.1:n.*1110C>T
ENST00000681117.1:c.*246C>T	ENSP00000506693.1:n.*246C>T
ENST00000681499.1:n.1000C>T
ENST00000681555.1:n.817C>T
ENST00000681686.1:c.1127C>T	ENSP00000505406.1:p.Pro376Leu
ENST00000261693.10:c.1127C>T	ENSP00000261693.6:p.Pro376Leu
ENST00000339570.9:c.1127C>T	ENSP00000343795.4:p.Pro376Leu
ENST00000415380.6:c.1127C>T	ENSP00000414979.2:p.Pro376Leu
ENST00000535005.5:n.1442C>T
ENST00000538291.5:n.1270C>T
ENST00000544327.1:c.965C>T	ENSP00000444851.1:p.Pro322Leu
ENST00000546215.5:c.1127C>T	ENSP00000442862.1:p.Pro376Leu
NM_001082959.1:c.1127C>T	NP_001076428.1:p.Pro376Leu
NM_005505.4:c.1127C>T	NP_005496.4:p.Pro376Leu
NM_005505.5:c.1127C>T MANE Select	NP_005496.4:p.Pro376Leu
NM_001082959.2:c.1127C>T	NP_001076428.1:p.Pro376Leu
NM_001367981.1:c.1127C>T	NP_001354910.1:p.Pro376Leu
NM_001367982.1:c.1004C>T	NP_001354911.1:p.Pro335Leu
NM_001367983.1:c.1127C>T	NP_001354912.1:p.Pro376Leu
NM_001367984.1:c.1127C>T	NP_001354913.1:p.Pro376Leu
NM_001367985.1:c.1103C>T	NP_001354914.1:p.Pro368Leu
NM_001367986.1:c.1127C>T	NP_001354915.1:p.Pro376Leu
NM_001367987.1:c.1004+7641C>T	NP_001354916.1:n.1004+7641C>T
NM_001367988.1:c.727-4857C>T	NP_001354917.1:n.727-4857C>T
NM_001367989.1:c.1127C>T	NP_001354918.1:p.Pro376Leu
NR_160416.1:n.1271C>T
NR_160417.1:n.1271C>T
NR_160418.1:n.1037+7636C>T
NR_160419.1:n.1271C>T
NR_160420.1:n.1155C>T
NR_160421.1:n.1153+7636C>T
NR_160422.1:n.1155C>T
NR_160423.1:n.1154-4857C>T
NR_160424.1:n.1266C>T