Canonical Allele Identifier: CA1181979
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158619315T>C
GRCh37 chr1:g.158589105T>C
Revel Score:
ENST00000368148 0.167
ENST00000368147 0.167
gnomAD v2:
1:158589105 T / C
gnomAD v3:
1:158619315 T / C
gnomAD v4:
chr1-158619315-T-C
Joint Max Group AF 0.0140306 (MID)
Genomes Max Group AF 0.01261403 (NFE)
Exomes Max Group AF 0.01395094 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158619315T>C , CM000663.2:g.158619315T>C GRCh38
NC_000001.10:g.158589105T>C , CM000663.1:g.158589105T>C GRCh37
NC_000001.9:g.156855729T>C NCBI36
NG_011474.1:g.72402A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.6437A>G MANE Select ENSP00000495214.1:p.Gln2146Arg
ENST00000368147.8:c.6437A>G ENSP00000357129.4:p.Gln2146Arg
ENST00000484520.1:n.640A>G
ENST00000614909.4:c.6437A>G ENSP00000482595.1:p.Gln2146Arg
NM_003126.2:c.6437A>G NP_003117.2:p.Gln2146Arg
XM_011509916.1:c.6437A>G XP_011508218.1:p.Gln2146Arg
XM_011509917.1:c.6437A>G XP_011508219.1:p.Gln2146Arg
NM_003126.3:c.6437A>G NP_003117.2:p.Gln2146Arg
XM_011509916.2:c.6437A>G XP_011508218.1:p.Gln2146Arg
XM_011509917.3:c.6437A>G XP_011508219.1:p.Gln2146Arg
NM_003126.4:c.6437A>G MANE Select NP_003117.2:p.Gln2146Arg
Search 100 bp 5'
Search 100 bp 3'