Canonical Allele Identifier: CA1183091
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158652485C>G
GRCh37 chr1:g.158622275C>G
Revel Score:
ENST00000368148 0.414
ENST00000368147 0.414
gnomAD v2:
1:158622275 C / G
gnomAD v3:
1:158652485 C / G
gnomAD v4:
chr1-158652485-C-G
Joint Max Group AF 0.00144888 (NFE)
Genomes Max Group AF 0.00129082 (NFE)
Exomes Max Group AF 0.00144583 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158652485C>G , CM000663.2:g.158652485C>G GRCh38
NC_000001.10:g.158622275C>G , CM000663.1:g.158622275C>G GRCh37
NC_000001.9:g.156888899C>G NCBI36
NG_011474.1:g.39232G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.3357G>C MANE Select ENSP00000495214.1:p.Lys1119Asn
ENST00000368147.8:c.3357G>C ENSP00000357129.4:p.Lys1119Asn
ENST00000614909.4:c.3357G>C ENSP00000482595.1:p.Lys1119Asn
NM_003126.2:c.3357G>C NP_003117.2:p.Lys1119Asn
XM_011509916.1:c.3357G>C XP_011508218.1:p.Lys1119Asn
XM_011509917.1:c.3357G>C XP_011508219.1:p.Lys1119Asn
XM_011509918.1:c.3357G>C XP_011508220.1:p.Lys1119Asn
XM_011509919.1:c.3357G>C XP_011508221.1:p.Lys1119Asn
XR_921911.1:n.3470G>C
XR_921912.1:n.3475G>C
NM_003126.3:c.3357G>C NP_003117.2:p.Lys1119Asn
XM_011509916.2:c.3357G>C XP_011508218.1:p.Lys1119Asn
XM_011509917.3:c.3357G>C XP_011508219.1:p.Lys1119Asn
XM_011509918.3:c.3357G>C XP_011508220.1:p.Lys1119Asn
XM_011509919.3:c.3357G>C XP_011508221.1:p.Lys1119Asn
XR_921911.3:n.3483G>C
XR_921912.2:n.3485G>C
NM_003126.4:c.3357G>C MANE Select NP_003117.2:p.Lys1119Asn
Search 100 bp 5'
Search 100 bp 3'