Canonical Allele Identifier: CA6870343

Gene: SCARB1

Linked Data

• dbSNP Id: rs375871139
• ExAC: 12:125284751 G / A
• gnomAD v2: 12-125284751-G-A
• gnomAD v3: 12-124800205-G-A
• gnomAD v4: 12-124800205-G-A
• MyVariant Identifiers: chr12:g.125284751G>A (hg19) ; chr12:g.124800205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124800205G>A , CM000674.2:g.124800205G>A	GRCh38
NC_000012.11:g.125284751G>A , CM000674.1:g.125284751G>A	GRCh37
NC_000012.10:g.123850704G>A	NCBI36
NG_028199.1:g.68769C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261693.11:c.1047C>T MANE Select	ENSP00000261693.6:p.Asn349=
ENST00000679605.1:c.*128+7556C>T	ENSP00000505370.1:n.*128+7556C>T
ENST00000679955.1:n.2771C>T
ENST00000680556.1:c.1004+7561C>T	ENSP00000505757.1:n.1004+7561C>T
ENST00000680596.1:c.1023C>T	ENSP00000505605.1:p.Asn341=
ENST00000680926.1:c.1042C>T	ENSP00000505571.1:p.Arg348Cys
ENST00000680982.1:c.*1030C>T	ENSP00000506281.1:n.*1030C>T
ENST00000681117.1:c.*166C>T	ENSP00000506693.1:n.*166C>T
ENST00000681499.1:n.920C>T
ENST00000681555.1:n.737C>T
ENST00000681686.1:c.1047C>T	ENSP00000505406.1:p.Asn349=
ENST00000261693.10:c.1047C>T	ENSP00000261693.6:p.Asn349=
ENST00000339570.9:c.1047C>T	ENSP00000343795.4:p.Asn349=
ENST00000415380.6:c.1047C>T	ENSP00000414979.2:p.Asn349=
ENST00000535005.5:n.1362C>T
ENST00000538291.5:n.1190C>T
ENST00000544327.1:c.885C>T	ENSP00000444851.1:p.Asn295=
ENST00000546215.5:c.1047C>T	ENSP00000442862.1:p.Asn349=
NM_001082959.1:c.1047C>T	NP_001076428.1:p.Asn349=
NM_005505.4:c.1047C>T	NP_005496.4:p.Asn349=
NM_005505.5:c.1047C>T MANE Select	NP_005496.4:p.Asn349=
NM_001082959.2:c.1047C>T	NP_001076428.1:p.Asn349=
NM_001367981.1:c.1047C>T	NP_001354910.1:p.Asn349=
NM_001367982.1:c.924C>T	NP_001354911.1:p.Asn308=
NM_001367983.1:c.1047C>T	NP_001354912.1:p.Asn349=
NM_001367984.1:c.1047C>T	NP_001354913.1:p.Asn349=
NM_001367985.1:c.1023C>T	NP_001354914.1:p.Asn341=
NM_001367986.1:c.1047C>T	NP_001354915.1:p.Asn349=
NM_001367987.1:c.1004+7561C>T	NP_001354916.1:n.1004+7561C>T
NM_001367988.1:c.727-4937C>T	NP_001354917.1:n.727-4937C>T
NM_001367989.1:c.1047C>T	NP_001354918.1:p.Asn349=
NR_160416.1:n.1191C>T
NR_160417.1:n.1191C>T
NR_160418.1:n.1037+7556C>T
NR_160419.1:n.1191C>T
NR_160420.1:n.1075C>T
NR_160421.1:n.1153+7556C>T
NR_160422.1:n.1075C>T
NR_160423.1:n.1154-4937C>T
NR_160424.1:n.1186C>T