Canonical Allele Identifier: CA952892008

Gene: SCARB1

Linked Data

• dbSNP Id: rs1872531746
• gnomAD v3: 12-124776904-A-G
• gnomAD v4: 12-124776904-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776904A>G , CM000674.2:g.124776904A>G	GRCh38
NC_000012.11:g.125261450A>G , CM000674.1:g.125261450A>G	GRCh37
NC_000012.10:g.123827403A>G	NCBI36
NG_028199.1:g.92070T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1683T>C MANE Select	ENSP00000261693.6:n.*1683T>C
ENST00000339570.9:c.*1563T>C	ENSP00000343795.4:n.*1563T>C
NM_005505.5:c.*1683T>C MANE Select	NP_005496.4:n.*1683T>C
NM_001082959.2:c.*1563T>C	NP_001076428.1:n.*1563T>C
NM_001367981.1:c.*1675T>C	NP_001354910.1:n.*1675T>C
NM_001367983.1:c.*1683T>C	NP_001354912.1:n.*1683T>C
NM_001367984.1:c.*1683T>C	NP_001354913.1:n.*1683T>C
NM_001367985.1:c.*1683T>C	NP_001354914.1:n.*1683T>C
NM_001367986.1:c.*1683T>C	NP_001354915.1:n.*1683T>C
NM_001367987.1:c.*1563T>C	NP_001354916.1:n.*1563T>C
NM_001367988.1:c.*1683T>C	NP_001354917.1:n.*1683T>C
NM_001367989.1:c.*1694T>C	NP_001354918.1:n.*1694T>C
NR_160416.1:n.3358T>C
NR_160417.1:n.3460T>C
NR_160418.1:n.2919T>C
NR_160419.1:n.3283T>C
NR_160420.1:n.3112T>C
NR_160421.1:n.3035T>C
NR_160422.1:n.3241T>C
NR_160423.1:n.3238T>C
NR_160424.1:n.3223T>C