Canonical Allele Identifier: CA2621767675

Gene: SCARB1

Linked Data

• gnomAD v4: 12-124776883-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776883C>G , CM000674.2:g.124776883C>G	GRCh38
NC_000012.11:g.125261429C>G , CM000674.1:g.125261429C>G	GRCh37
NC_000012.10:g.123827382C>G	NCBI36
NG_028199.1:g.92091G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1704G>C MANE Select	ENSP00000261693.6:n.*1704G>C
ENST00000339570.9:c.*1584G>C	ENSP00000343795.4:n.*1584G>C
NM_005505.5:c.*1704G>C MANE Select	NP_005496.4:n.*1704G>C
NM_001082959.2:c.*1584G>C	NP_001076428.1:n.*1584G>C
NM_001367981.1:c.*1696G>C	NP_001354910.1:n.*1696G>C
NM_001367983.1:c.*1704G>C	NP_001354912.1:n.*1704G>C
NM_001367984.1:c.*1704G>C	NP_001354913.1:n.*1704G>C
NM_001367985.1:c.*1704G>C	NP_001354914.1:n.*1704G>C
NM_001367986.1:c.*1704G>C	NP_001354915.1:n.*1704G>C
NM_001367987.1:c.*1584G>C	NP_001354916.1:n.*1584G>C
NM_001367988.1:c.*1704G>C	NP_001354917.1:n.*1704G>C
NM_001367989.1:c.*1715G>C	NP_001354918.1:n.*1715G>C
NR_160416.1:n.3379G>C
NR_160417.1:n.3481G>C
NR_160418.1:n.2940G>C
NR_160419.1:n.3304G>C
NR_160420.1:n.3133G>C
NR_160421.1:n.3056G>C
NR_160422.1:n.3262G>C
NR_160423.1:n.3259G>C
NR_160424.1:n.3244G>C