Canonical Allele Identifier: CA1181985
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158619331G>A
GRCh37 chr1:g.158589121G>A
Revel Score:
ENST00000368148 0.690
ENST00000368147 0.690
gnomAD v2:
1:158589121 G / A
gnomAD v3:
1:158619331 G / A
gnomAD v4:
chr1-158619331-G-A
Joint Max Group AF 0.0033101 (AFR)
Genomes Max Group AF 0.00334342 (AFR)
Exomes Max Group AF 0.00302613 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158619331G>A , CM000663.2:g.158619331G>A GRCh38
NC_000001.10:g.158589121G>A , CM000663.1:g.158589121G>A GRCh37
NC_000001.9:g.156855745G>A NCBI36
NG_011474.1:g.72386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.6421C>T MANE Select ENSP00000495214.1:p.Arg2141Trp
ENST00000368147.8:c.6421C>T ENSP00000357129.4:p.Arg2141Trp
ENST00000484520.1:n.624C>T
ENST00000614909.4:c.6421C>T ENSP00000482595.1:p.Arg2141Trp
NM_003126.2:c.6421C>T NP_003117.2:p.Arg2141Trp
XM_011509916.1:c.6421C>T XP_011508218.1:p.Arg2141Trp
XM_011509917.1:c.6421C>T XP_011508219.1:p.Arg2141Trp
NM_003126.3:c.6421C>T NP_003117.2:p.Arg2141Trp
XM_011509916.2:c.6421C>T XP_011508218.1:p.Arg2141Trp
XM_011509917.3:c.6421C>T XP_011508219.1:p.Arg2141Trp
NM_003126.4:c.6421C>T MANE Select NP_003117.2:p.Arg2141Trp
Search 100 bp 5'
Search 100 bp 3'