Canonical Allele Identifier: CA1181833
Gene: SPTA1 HGNC NCBI
COSMIC:
COSM3733640 (not active)
MyVariant.info:
GRCh38 chr1:g.158614301A>G
GRCh37 chr1:g.158584091A>G
Revel Score:
ENST00000368148 0.047
ENST00000368147 0.047
gnomAD v2:
1:158584091 A / G
gnomAD v3:
1:158614301 A / G
gnomAD v4:
chr1-158614301-A-G
Joint Max Group AF 0.59501846 (EAS)
Genomes Max Group AF 0.60310822 (EAS)
Exomes Max Group AF 0.5920393 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158614301A>G , CM000663.2:g.158614301A>G GRCh38
NC_000001.10:g.158584091A>G , CM000663.1:g.158584091A>G GRCh37
NC_000001.9:g.156850715A>G NCBI36
NG_011474.1:g.77416T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.6794T>C MANE Select ENSP00000495214.1:p.Ile2265Thr
ENST00000368147.8:c.6794T>C ENSP00000357129.4:p.Ile2265Thr
ENST00000481212.5:n.235T>C
ENST00000498708.1:n.226T>C
ENST00000614909.4:c.6794T>C ENSP00000482595.1:p.Ile2265Thr
NM_003126.2:c.6794T>C NP_003117.2:p.Ile2265Thr
XM_011509916.1:c.6794T>C XP_011508218.1:p.Ile2265Thr
XM_011509917.1:c.6776T>C XP_011508219.1:p.Ile2259Thr
NM_003126.3:c.6794T>C NP_003117.2:p.Ile2265Thr
XM_011509916.2:c.6794T>C XP_011508218.1:p.Ile2265Thr
XM_011509917.3:c.6776T>C XP_011508219.1:p.Ile2259Thr
NM_003126.4:c.6794T>C MANE Select NP_003117.2:p.Ile2265Thr
Search 100 bp 5'
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