Canonical Allele Identifier: CA1182321
Gene: SPTA1 HGNC NCBI
COSMIC:
COSM220028
MyVariant.info:
GRCh38 chr1:g.158635967C>T
GRCh37 chr1:g.158605757C>T
Revel Score:
ENST00000368148 0.367
ENST00000368147 0.367
gnomAD v2:
1:158605757 C / T
gnomAD v3:
1:158635967 C / T
gnomAD v4:
chr1-158635967-C-T
Joint Max Group AF 0.00170027 (NFE)
Genomes Max Group AF 0.00131743 (NFE)
Exomes Max Group AF 0.00171078 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158635967C>T , CM000663.2:g.158635967C>T GRCh38
NC_000001.10:g.158605757C>T , CM000663.1:g.158605757C>T GRCh37
NC_000001.9:g.156872381C>T NCBI36
NG_011474.1:g.55750G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.5378G>A MANE Select ENSP00000495214.1:p.Arg1793Gln
ENST00000368147.8:c.5378G>A ENSP00000357129.4:p.Arg1793Gln
ENST00000614909.4:c.5378G>A ENSP00000482595.1:p.Arg1793Gln
NM_003126.2:c.5378G>A NP_003117.2:p.Arg1793Gln
XM_011509916.1:c.5378G>A XP_011508218.1:p.Arg1793Gln
XM_011509917.1:c.5378G>A XP_011508219.1:p.Arg1793Gln
XM_011509918.1:c.5378G>A XP_011508220.1:p.Arg1793Gln
XM_011509919.1:c.*81G>A XP_011508221.1:n.*81G>A
XR_921911.1:n.5491G>A
NM_003126.3:c.5378G>A NP_003117.2:p.Arg1793Gln
XM_011509916.2:c.5378G>A XP_011508218.1:p.Arg1793Gln
XM_011509917.3:c.5378G>A XP_011508219.1:p.Arg1793Gln
XM_011509918.3:c.5378G>A XP_011508220.1:p.Arg1793Gln
XM_011509919.3:c.*81G>A XP_011508221.1:n.*81G>A
XR_921911.3:n.5504G>A
NM_003126.4:c.5378G>A MANE Select NP_003117.2:p.Arg1793Gln
Search 100 bp 5'
Search 100 bp 3'