Canonical Allele Identifier: CA346210111

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598414G>T (hg19) ; chr2:g.27375547G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375547G>T , CM000664.2:g.27375547G>T	GRCh38
NC_000002.11:g.27598414G>T , CM000664.1:g.27598414G>T	GRCh37
NC_000002.10:g.27451918G>T	NCBI36
NG_028219.1:g.10198C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.816G>T MANE Select	ENSP00000233575.2:p.Leu272Phe
ENST00000233575.6:c.816G>T	ENSP00000233575.2:p.Leu272Phe
ENST00000427123.5:c.*626G>T	ENSP00000405399.1:n.*626G>T
ENST00000440760.5:c.*661G>T	ENSP00000399727.1:n.*661G>T
ENST00000453453.1:c.*343G>T	ENSP00000401922.1:n.*343G>T
ENST00000493711.1:n.533G>T
ENST00000537606.5:c.741G>T	ENSP00000439208.1:p.Leu247Phe
NM_001267059.1:c.780G>T	NP_001253988.1:p.Leu260Phe
NM_001267060.1:c.741G>T	NP_001253989.1:p.Leu247Phe
NM_001267061.1:c.756G>T	NP_001253990.1:p.Leu252Phe
NM_014748.3:c.816G>T	NP_055563.1:p.Leu272Phe
NR_049782.1:n.1189G>T
NR_049783.1:n.1162G>T
NR_049784.1:n.1138G>T
NR_049785.1:n.1071G>T
NR_049786.1:n.1020G>T
NR_049787.1:n.871G>T
NR_049788.1:n.801G>T
XM_011533203.1:c.174G>T	XP_011531505.1:p.Leu58Phe
XM_011533203.2:c.174G>T	XP_011531505.1:p.Leu58Phe
XM_017005405.2:c.174G>T	XP_016860894.1:p.Leu58Phe
NM_014748.4:c.816G>T MANE Select	NP_055563.1:p.Leu272Phe
NM_001267059.2:c.780G>T	NP_001253988.1:p.Leu260Phe
NM_001267061.2:c.756G>T	NP_001253990.1:p.Leu252Phe
NR_049782.2:n.1069G>T
NR_049783.2:n.1042G>T
NR_049784.2:n.1018G>T
NR_049785.2:n.951G>T
NR_049786.2:n.900G>T
NR_049787.2:n.751G>T
NR_049788.2:n.681G>T
NM_001267060.2:c.741G>T	NP_001253989.1:p.Leu247Phe