Canonical Allele Identifier: CA1181738
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158612883T>G
GRCh37 chr1:g.158582673T>G
Revel Score:
ENST00000368148 0.069
ENST00000368147 0.069
gnomAD v2:
1:158582673 T / G
gnomAD v3:
1:158612883 T / G
gnomAD v4:
chr1-158612883-T-G
Joint Max Group AF 0.00161638 (AMR)
Genomes Max Group AF 0.00146638 (AMR)
Exomes Max Group AF 0.00153458 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612883T>G , CM000663.2:g.158612883T>G GRCh38
NC_000001.10:g.158582673T>G , CM000663.1:g.158582673T>G GRCh37
NC_000001.9:g.156849297T>G NCBI36
NG_011474.1:g.78834A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.7068A>C MANE Select ENSP00000495214.1:p.Glu2356Asp
ENST00000368147.8:c.7068A>C ENSP00000357129.4:p.Glu2356Asp
ENST00000481212.5:n.509A>C
ENST00000498708.1:n.500A>C
ENST00000614909.4:c.7068A>C ENSP00000482595.1:p.Glu2356Asp
NM_003126.2:c.7068A>C NP_003117.2:p.Glu2356Asp
XM_011509916.1:c.7068A>C XP_011508218.1:p.Glu2356Asp
XM_011509917.1:c.7050A>C XP_011508219.1:p.Glu2350Asp
NM_003126.3:c.7068A>C NP_003117.2:p.Glu2356Asp
XM_011509916.2:c.7068A>C XP_011508218.1:p.Glu2356Asp
XM_011509917.3:c.7050A>C XP_011508219.1:p.Glu2350Asp
NM_003126.4:c.7068A>C MANE Select NP_003117.2:p.Glu2356Asp
Search 100 bp 5'
Search 100 bp 3'