Canonical Allele Identifier: CA1181797
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158613860C>T
GRCh38 chr1:g.158613860_158613862delinsTAA
GRCh37 chr1:g.158583650C>T
GRCh37 chr1:g.158583650_158583652delinsTAA
Revel Score:
ENST00000368148 0.417
ENST00000368147 0.417
gnomAD v2:
1:158583650 C / T
gnomAD v3:
1:158613860 C / T
gnomAD v4:
chr1-158613860-C-T
Joint Max Group AF 0.01472543 (AFR)
Genomes Max Group AF 0.01339265 (AFR)
Exomes Max Group AF 0.01570139 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158613860C>T , CM000663.2:g.158613860C>T GRCh38
NC_000001.10:g.158583650C>T , CM000663.1:g.158583650C>T GRCh37
NC_000001.9:g.156850274C>T NCBI36
NG_011474.1:g.77857G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.6850G>A MANE Select ENSP00000495214.1:p.Asp2284Asn
ENST00000368147.8:c.6850G>A ENSP00000357129.4:p.Asp2284Asn
ENST00000481212.5:n.291G>A
ENST00000498708.1:n.282G>A
ENST00000614909.4:c.6850G>A ENSP00000482595.1:p.Asp2284Asn
NM_003126.2:c.6850G>A NP_003117.2:p.Asp2284Asn
XM_011509916.1:c.6850G>A XP_011508218.1:p.Asp2284Asn
XM_011509917.1:c.6832G>A XP_011508219.1:p.Asp2278Asn
NM_003126.3:c.6850G>A NP_003117.2:p.Asp2284Asn
XM_011509916.2:c.6850G>A XP_011508218.1:p.Asp2284Asn
XM_011509917.3:c.6832G>A XP_011508219.1:p.Asp2278Asn
NM_003126.4:c.6850G>A MANE Select NP_003117.2:p.Asp2284Asn
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