Canonical Allele Identifier: CA392822423

Gene: SNX1

Linked Data

• ClinVar Variation Id: 2292461
• ClinVar RCV Id: RCV004144293
• dbSNP Id: rs1204465320
• MyVariant Identifiers: chr15:g.64418384T>A (hg19) ; chr15:g.64126185T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.64126185T>A , CM000677.2:g.64126185T>A	GRCh38
NC_000015.9:g.64418384T>A , CM000677.1:g.64418384T>A	GRCh37
NC_000015.8:g.62205437T>A	NCBI36
NG_029708.1:g.35302T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559844.6:c.617T>A MANE Select	ENSP00000453785.1:p.Phe206Tyr
ENST00000261889.9:c.617T>A	ENSP00000261889.5:p.Phe206Tyr
ENST00000380285.7:c.*222T>A	ENSP00000369638.3:n.*222T>A
ENST00000558040.5:c.309+8019T>A	ENSP00000452668.1:n.309+8019T>A
ENST00000559389.1:c.718T>A
ENST00000559844.5:c.617T>A	ENSP00000453785.1:p.Phe206Tyr
ENST00000560260.5:c.*54T>A	ENSP00000452759.1:n.*54T>A
ENST00000560829.5:c.-2-989T>A	ENSP00000452651.1:n.-2-989T>A
ENST00000561026.5:c.422T>A	ENSP00000453567.1:p.Phe141Tyr
NM_001242933.1:c.617T>A	NP_001229862.1:p.Phe206Tyr
NM_003099.4:c.617T>A	NP_003090.2:p.Phe206Tyr
NM_148955.3:c.422T>A	NP_683758.1:p.Phe141Tyr
XM_005254611.1:c.143T>A	XP_005254668.1:p.Phe48Tyr
XM_005254611.3:c.143T>A	XP_005254668.1:p.Phe48Tyr
XR_001751380.1:n.747T>A
XR_001751381.1:n.747T>A
NM_003099.5:c.617T>A MANE Select	NP_003090.2:p.Phe206Tyr
NM_001242933.2:c.617T>A	NP_001229862.1:p.Phe206Tyr
NM_148955.4:c.422T>A	NP_683758.1:p.Phe141Tyr