Canonical Allele Identifier: CA7607849
Gene: SNX1 HGNC NCBI
ClinVar RCV:
RCV004136235
ClinVar Variation:
2282889
dbSNP:
139810506
gnomAD v2:
15:64422118 C / A
gnomAD v3:
15:64129919 C / A
gnomAD v4:
chr15-64129919-C-A
Joint Max Group AF 0.00161178 (NFE)
Genomes Max Group AF 0.00119575 (NFE)
Exomes Max Group AF 0.0016241 (NFE)
MyVariant.info:
GRCh38 chr15:g.64129919C>A
GRCh37 chr15:g.64422118C>A
Revel Score:
ENST00000380285 0.360
ENST00000353874 0.360
ENST00000261889 0.360
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64129919C>A , CM000677.2:g.64129919C>A GRCh38
NC_000015.9:g.64422118C>A , CM000677.1:g.64422118C>A GRCh37
NC_000015.8:g.62209171C>A NCBI36
NG_029708.1:g.39036C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559844.6:c.811C>A MANE Select ENSP00000453785.1:p.Pro271Thr
ENST00000261889.9:c.811C>A ENSP00000261889.5:p.Pro271Thr
ENST00000380285.7:c.*416C>A ENSP00000369638.3:n.*416C>A
ENST00000558040.5:c.309+11753C>A ENSP00000452668.1:n.309+11753C>A
ENST00000559844.5:c.811C>A ENSP00000453785.1:p.Pro271Thr
ENST00000560260.5:c.*291C>A ENSP00000452759.1:n.*291C>A
ENST00000560829.5:c.157C>A ENSP00000452651.1:p.Pro53Thr
ENST00000561026.5:c.616C>A ENSP00000453567.1:p.Pro206Thr
NM_001242933.1:c.811C>A NP_001229862.1:p.Pro271Thr
NM_003099.4:c.811C>A NP_003090.2:p.Pro271Thr
NM_148955.3:c.616C>A NP_683758.1:p.Pro206Thr
XM_005254611.1:c.337C>A XP_005254668.1:p.Pro113Thr
XM_005254611.3:c.337C>A XP_005254668.1:p.Pro113Thr
XR_001751380.1:n.984C>A
XR_001751381.1:n.984C>A
NM_003099.5:c.811C>A MANE Select NP_003090.2:p.Pro271Thr
NM_001242933.2:c.811C>A NP_001229862.1:p.Pro271Thr
NM_148955.4:c.616C>A NP_683758.1:p.Pro206Thr
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