Canonical Allele Identifier: CA392820503

Gene: SNX1

Linked Data

• ClinVar Variation Id: 2321369
• ClinVar RCV Id: RCV004166537
• MyVariant Identifiers: chr15:g.64411027T>G (hg19) ; chr15:g.64118828T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.64118828T>G , CM000677.2:g.64118828T>G	GRCh38
NC_000015.9:g.64411027T>G , CM000677.1:g.64411027T>G	GRCh37
NC_000015.8:g.62198080T>G	NCBI36
NG_029708.1:g.27945T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559844.6:c.440T>G MANE Select	ENSP00000453785.1:p.Val147Gly
ENST00000261889.9:c.440T>G	ENSP00000261889.5:p.Val147Gly
ENST00000380285.7:c.*45T>G	ENSP00000369638.3:n.*45T>G
ENST00000558040.5:c.309+662T>G	ENSP00000452668.1:n.309+662T>G
ENST00000559061.5:c.-35T>G	ENSP00000452652.1:n.-35T>G
ENST00000559389.1:c.541T>G
ENST00000559844.5:c.440T>G	ENSP00000453785.1:p.Val147Gly
ENST00000560260.5:c.271+6144T>G	ENSP00000452759.1:n.271+6144T>G
ENST00000560829.5:c.-73T>G	ENSP00000452651.1:n.-73T>G
ENST00000561026.5:c.272-4675T>G	ENSP00000453567.1:n.272-4675T>G
ENST00000625244.2:c.271+6144T>G	ENSP00000486714.1:n.271+6144T>G
NM_001242933.1:c.440T>G	NP_001229862.1:p.Val147Gly
NM_003099.4:c.440T>G	NP_003090.2:p.Val147Gly
NM_148955.3:c.272-4675T>G	NP_683758.1:n.272-4675T>G
XM_005254611.1:c.-35T>G	XP_005254668.1:n.-35T>G
XM_005254611.3:c.-35T>G	XP_005254668.1:n.-35T>G
XR_001751380.1:n.570T>G
XR_001751381.1:n.570T>G
NM_003099.5:c.440T>G MANE Select	NP_003090.2:p.Val147Gly
NM_001242933.2:c.440T>G	NP_001229862.1:p.Val147Gly
NM_148955.4:c.272-4675T>G	NP_683758.1:n.272-4675T>G