Canonical Allele Identifier: CA1183557
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158667914C>T
GRCh37 chr1:g.158637704C>T
Revel Score:
ENST00000368148 0.239
ENST00000368147 0.239
gnomAD v2:
1:158637704 C / T
gnomAD v3:
1:158667914 C / T
gnomAD v4:
chr1-158667914-C-T
Joint Max Group AF 0.00535613 (SAS)
Genomes Max Group AF 0.00483079 (SAS)
Exomes Max Group AF 0.0052979 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158667914C>T , CM000663.2:g.158667914C>T GRCh38
NC_000001.10:g.158637704C>T , CM000663.1:g.158637704C>T GRCh37
NC_000001.9:g.156904328C>T NCBI36
NG_011474.1:g.23803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.1982G>A MANE Select ENSP00000495214.1:p.Arg661His
ENST00000368147.8:c.1982G>A ENSP00000357129.4:p.Arg661His
ENST00000614909.4:c.1982G>A ENSP00000482595.1:p.Arg661His
NM_003126.2:c.1982G>A NP_003117.2:p.Arg661His
XM_011509916.1:c.1982G>A XP_011508218.1:p.Arg661His
XM_011509917.1:c.1982G>A XP_011508219.1:p.Arg661His
XM_011509918.1:c.1982G>A XP_011508220.1:p.Arg661His
XM_011509919.1:c.1982G>A XP_011508221.1:p.Arg661His
XR_921911.1:n.2095G>A
XR_921912.1:n.2100G>A
NM_003126.3:c.1982G>A NP_003117.2:p.Arg661His
XM_011509916.2:c.1982G>A XP_011508218.1:p.Arg661His
XM_011509917.3:c.1982G>A XP_011508219.1:p.Arg661His
XM_011509918.3:c.1982G>A XP_011508220.1:p.Arg661His
XM_011509919.3:c.1982G>A XP_011508221.1:p.Arg661His
XR_921911.3:n.2108G>A
XR_921912.2:n.2110G>A
NM_003126.4:c.1982G>A MANE Select NP_003117.2:p.Arg661His
Search 100 bp 5'
Search 100 bp 3'