Canonical Allele Identifier: CA122747
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158678434A>G
GRCh37 chr1:g.158648224A>G
Revel Score:
ENST00000368148 0.839
ENST00000368147 0.839
gnomAD v2:
1:158648224 A / G
gnomAD v3:
1:158678434 A / G
gnomAD v4:
chr1-158678434-A-G
Joint Max Group AF 0.00013305 (AFR)
Genomes Max Group AF 0.00009563 (AFR)
Exomes Max Group AF 0.00011838 (AFR)
ClinVar RCV:
RCV000013697
RCV000413397
ClinVar Variation:
12844
dbSNP:
121918634
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158678434A>G , CM000663.2:g.158678434A>G GRCh38
NC_000001.10:g.158648224A>G , CM000663.1:g.158648224A>G GRCh37
NC_000001.9:g.156914848A>G NCBI36
NG_011474.1:g.13283T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.779T>C MANE Select ENSP00000495214.1:p.Leu260Pro
ENST00000368147.8:c.779T>C ENSP00000357129.4:p.Leu260Pro
ENST00000467387.1:c.233T>C ENSP00000476485.1:p.Leu78Pro
ENST00000614909.4:c.779T>C ENSP00000482595.1:p.Leu260Pro
NM_003126.2:c.779T>C NP_003117.2:p.Leu260Pro
XM_011509916.1:c.779T>C XP_011508218.1:p.Leu260Pro
XM_011509917.1:c.779T>C XP_011508219.1:p.Leu260Pro
XM_011509918.1:c.779T>C XP_011508220.1:p.Leu260Pro
XM_011509919.1:c.779T>C XP_011508221.1:p.Leu260Pro
XR_921911.1:n.892T>C
XR_921912.1:n.897T>C
NM_003126.3:c.779T>C NP_003117.2:p.Leu260Pro
XM_011509916.2:c.779T>C XP_011508218.1:p.Leu260Pro
XM_011509917.3:c.779T>C XP_011508219.1:p.Leu260Pro
XM_011509918.3:c.779T>C XP_011508220.1:p.Leu260Pro
XM_011509919.3:c.779T>C XP_011508221.1:p.Leu260Pro
XR_921911.3:n.905T>C
XR_921912.2:n.907T>C
NM_003126.4:c.779T>C MANE Select NP_003117.2:p.Leu260Pro
Search 100 bp 5'
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