Canonical Allele Identifier: CA482281876
Community Standard Title: NM_005505.5(SCARB1):c.1050T>G (p.Ala350=)
Gene: SCARB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.124800202A>C , CM000674.2:g.124800202A>C GRCh38
NC_000012.11:g.125284748A>C , CM000674.1:g.125284748A>C GRCh37
NC_000012.10:g.123850701A>C NCBI36
NG_028199.1:g.68772T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005505.5:c.1050T>G MANE Select NP_005496.4:p.Ala350=
ENST00000261693.11:c.1050T>G MANE Select ENSP00000261693.6:p.Ala350=
NM_001082959.1:c.1050T>G NP_001076428.1:p.Ala350=
NM_001082959.2:c.1050T>G NP_001076428.1:p.Ala350=
NM_001367981.1:c.1050T>G NP_001354910.1:p.Ala350=
NM_001367982.1:c.927T>G NP_001354911.1:p.Ala309=
NM_001367983.1:c.1050T>G NP_001354912.1:p.Ala350=
NM_001367984.1:c.1050T>G NP_001354913.1:p.Ala350=
NM_001367985.1:c.1026T>G NP_001354914.1:p.Ala342=
NM_001367986.1:c.1050T>G NP_001354915.1:p.Ala350=
NM_001367987.1:c.1004+7564T>G NP_001354916.1:n.1004+7564T>G
NM_001367988.1:c.727-4934T>G NP_001354917.1:n.727-4934T>G
NM_001367989.1:c.1050T>G NP_001354918.1:p.Ala350=
NM_005505.4:c.1050T>G NP_005496.4:p.Ala350=
NR_160416.1:n.1194T>G
NR_160417.1:n.1194T>G
NR_160418.1:n.1037+7559T>G
NR_160419.1:n.1194T>G
NR_160420.1:n.1078T>G
NR_160421.1:n.1153+7559T>G
NR_160422.1:n.1078T>G
NR_160423.1:n.1154-4934T>G
NR_160424.1:n.1189T>G
ENST00000261693.10:c.1050T>G ENSP00000261693.6:p.Ala350=
ENST00000339570.9:c.1050T>G ENSP00000343795.4:p.Ala350=
ENST00000415380.6:c.1050T>G ENSP00000414979.2:p.Ala350=
ENST00000535005.5:n.1365T>G
ENST00000538291.5:n.1193T>G
ENST00000544327.1:c.888T>G ENSP00000444851.1:p.Ala296=
ENST00000546215.5:c.1050T>G ENSP00000442862.1:p.Ala350=
ENST00000679605.1:c.*128+7559T>G ENSP00000505370.1:n.*128+7559T>G
ENST00000679955.1:n.2774T>G
ENST00000680556.1:c.1004+7564T>G ENSP00000505757.1:n.1004+7564T>G
ENST00000680596.1:c.1026T>G ENSP00000505605.1:p.Ala342=
ENST00000680926.1:c.1045T>G ENSP00000505571.1:p.Ter349Gly
ENST00000680982.1:c.*1033T>G ENSP00000506281.1:n.*1033T>G
ENST00000681117.1:c.*169T>G ENSP00000506693.1:n.*169T>G
ENST00000681499.1:n.923T>G
ENST00000681555.1:n.740T>G
ENST00000681686.1:c.1050T>G ENSP00000505406.1:p.Ala350=