Canonical Allele Identifier: CA1182042
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158620354A>T
GRCh37 chr1:g.158590144A>T
Revel Score:
ENST00000368148 0.562
ENST00000368147 0.562
gnomAD v2:
1:158590144 A / T
gnomAD v3:
1:158620354 A / T
gnomAD v4:
chr1-158620354-A-T
Joint Max Group AF 0.00116571 (EAS)
Genomes Max Group AF 0.00026486 (EAS)
Exomes Max Group AF 0.00122704 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158620354A>T , CM000663.2:g.158620354A>T GRCh38
NC_000001.10:g.158590144A>T , CM000663.1:g.158590144A>T GRCh37
NC_000001.9:g.156856768A>T NCBI36
NG_011474.1:g.71363T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.6233T>A MANE Select ENSP00000495214.1:p.Ile2078Asn
ENST00000368147.8:c.6233T>A ENSP00000357129.4:p.Ile2078Asn
ENST00000484520.1:n.436T>A
ENST00000614909.4:c.6233T>A ENSP00000482595.1:p.Ile2078Asn
NM_003126.2:c.6233T>A NP_003117.2:p.Ile2078Asn
XM_011509916.1:c.6233T>A XP_011508218.1:p.Ile2078Asn
XM_011509917.1:c.6233T>A XP_011508219.1:p.Ile2078Asn
NM_003126.3:c.6233T>A NP_003117.2:p.Ile2078Asn
XM_011509916.2:c.6233T>A XP_011508218.1:p.Ile2078Asn
XM_011509917.3:c.6233T>A XP_011508219.1:p.Ile2078Asn
NM_003126.4:c.6233T>A MANE Select NP_003117.2:p.Ile2078Asn
Search 100 bp 5'
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