Canonical Allele Identifier: CA346209993

Gene: SNX17

Linked Data

• COSMIC: COSM5033620
• MyVariant Identifiers: chr2:g.27598385G>A (hg19) ; chr2:g.27375518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375518G>A , CM000664.2:g.27375518G>A	GRCh38
NC_000002.11:g.27598385G>A , CM000664.1:g.27598385G>A	GRCh37
NC_000002.10:g.27451889G>A	NCBI36
NG_028219.1:g.10227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.787G>A MANE Select	ENSP00000233575.2:p.Ala263Thr
ENST00000233575.6:c.787G>A	ENSP00000233575.2:p.Ala263Thr
ENST00000427123.5:c.*597G>A	ENSP00000405399.1:n.*597G>A
ENST00000440760.5:c.*632G>A	ENSP00000399727.1:n.*632G>A
ENST00000453453.1:c.*314G>A	ENSP00000401922.1:n.*314G>A
ENST00000493711.1:n.504G>A
ENST00000494893.5:n.963G>A
ENST00000537606.5:c.712G>A	ENSP00000439208.1:p.Ala238Thr
NM_001267059.1:c.751G>A	NP_001253988.1:p.Ala251Thr
NM_001267060.1:c.712G>A	NP_001253989.1:p.Ala238Thr
NM_001267061.1:c.727G>A	NP_001253990.1:p.Ala243Thr
NM_014748.3:c.787G>A	NP_055563.1:p.Ala263Thr
NR_049782.1:n.1160G>A
NR_049783.1:n.1133G>A
NR_049784.1:n.1109G>A
NR_049785.1:n.1042G>A
NR_049786.1:n.991G>A
NR_049787.1:n.842G>A
NR_049788.1:n.772G>A
XM_011533203.1:c.145G>A	XP_011531505.1:p.Ala49Thr
XM_011533203.2:c.145G>A	XP_011531505.1:p.Ala49Thr
XM_017005405.2:c.145G>A	XP_016860894.1:p.Ala49Thr
NM_014748.4:c.787G>A MANE Select	NP_055563.1:p.Ala263Thr
NM_001267059.2:c.751G>A	NP_001253988.1:p.Ala251Thr
NM_001267061.2:c.727G>A	NP_001253990.1:p.Ala243Thr
NR_049782.2:n.1040G>A
NR_049783.2:n.1013G>A
NR_049784.2:n.989G>A
NR_049785.2:n.922G>A
NR_049786.2:n.871G>A
NR_049787.2:n.722G>A
NR_049788.2:n.652G>A
NM_001267060.2:c.712G>A	NP_001253989.1:p.Ala238Thr