Canonical Allele Identifier: CA346209747

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597974A>T (hg19) ; chr2:g.27375107A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375107A>T , CM000664.2:g.27375107A>T	GRCh38
NC_000002.11:g.27597974A>T , CM000664.1:g.27597974A>T	GRCh37
NC_000002.10:g.27451478A>T	NCBI36
NG_009305.1:g.351T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.728A>T MANE Select	ENSP00000233575.2:p.Gln243Leu
ENST00000233575.6:c.728A>T	ENSP00000233575.2:p.Gln243Leu
ENST00000427123.5:c.*538A>T	ENSP00000405399.1:n.*538A>T
ENST00000440760.5:c.*573A>T	ENSP00000399727.1:n.*573A>T
ENST00000453453.1:c.*255A>T	ENSP00000401922.1:n.*255A>T
ENST00000493711.1:n.445A>T
ENST00000494893.5:n.904A>T
ENST00000537606.5:c.653A>T	ENSP00000439208.1:p.Gln218Leu
NM_001267059.1:c.692A>T	NP_001253988.1:p.Gln231Leu
NM_001267060.1:c.653A>T	NP_001253989.1:p.Gln218Leu
NM_001267061.1:c.668A>T	NP_001253990.1:p.Gln223Leu
NM_014748.3:c.728A>T	NP_055563.1:p.Gln243Leu
NR_049782.1:n.1101A>T
NR_049783.1:n.1074A>T
NR_049784.1:n.1050A>T
NR_049785.1:n.983A>T
NR_049786.1:n.932A>T
NR_049787.1:n.783A>T
NR_049788.1:n.713A>T
XM_011533203.1:c.86A>T	XP_011531505.1:p.Gln29Leu
XM_011533203.2:c.86A>T	XP_011531505.1:p.Gln29Leu
XM_017005405.2:c.86A>T	XP_016860894.1:p.Gln29Leu
NM_014748.4:c.728A>T MANE Select	NP_055563.1:p.Gln243Leu
NM_001267059.2:c.692A>T	NP_001253988.1:p.Gln231Leu
NM_001267061.2:c.668A>T	NP_001253990.1:p.Gln223Leu
NR_049782.2:n.981A>T
NR_049783.2:n.954A>T
NR_049784.2:n.930A>T
NR_049785.2:n.863A>T
NR_049786.2:n.812A>T
NR_049787.2:n.663A>T
NR_049788.2:n.593A>T
NM_001267060.2:c.653A>T	NP_001253989.1:p.Gln218Leu