Canonical Allele Identifier: CA346210124

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598418T>A (hg19) ; chr2:g.27375551T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375551T>A , CM000664.2:g.27375551T>A	GRCh38
NC_000002.11:g.27598418T>A , CM000664.1:g.27598418T>A	GRCh37
NC_000002.10:g.27451922T>A	NCBI36
NG_028219.1:g.10194A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.820T>A MANE Select	ENSP00000233575.2:p.Phe274Ile
ENST00000233575.6:c.820T>A	ENSP00000233575.2:p.Phe274Ile
ENST00000427123.5:c.*630T>A	ENSP00000405399.1:n.*630T>A
ENST00000440760.5:c.*665T>A	ENSP00000399727.1:n.*665T>A
ENST00000453453.1:c.*347T>A	ENSP00000401922.1:n.*347T>A
ENST00000493711.1:n.537T>A
ENST00000537606.5:c.745T>A	ENSP00000439208.1:p.Phe249Ile
NM_001267059.1:c.784T>A	NP_001253988.1:p.Phe262Ile
NM_001267060.1:c.745T>A	NP_001253989.1:p.Phe249Ile
NM_001267061.1:c.760T>A	NP_001253990.1:p.Phe254Ile
NM_014748.3:c.820T>A	NP_055563.1:p.Phe274Ile
NR_049782.1:n.1193T>A
NR_049783.1:n.1166T>A
NR_049784.1:n.1142T>A
NR_049785.1:n.1075T>A
NR_049786.1:n.1024T>A
NR_049787.1:n.875T>A
NR_049788.1:n.805T>A
XM_011533203.1:c.178T>A	XP_011531505.1:p.Phe60Ile
XM_011533203.2:c.178T>A	XP_011531505.1:p.Phe60Ile
XM_017005405.2:c.178T>A	XP_016860894.1:p.Phe60Ile
NM_014748.4:c.820T>A MANE Select	NP_055563.1:p.Phe274Ile
NM_001267059.2:c.784T>A	NP_001253988.1:p.Phe262Ile
NM_001267061.2:c.760T>A	NP_001253990.1:p.Phe254Ile
NR_049782.2:n.1073T>A
NR_049783.2:n.1046T>A
NR_049784.2:n.1022T>A
NR_049785.2:n.955T>A
NR_049786.2:n.904T>A
NR_049787.2:n.755T>A
NR_049788.2:n.685T>A
NM_001267060.2:c.745T>A	NP_001253989.1:p.Phe249Ile