Canonical Allele Identifier: CA346210119

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598416G>T (hg19) ; chr2:g.27375549G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375549G>T , CM000664.2:g.27375549G>T	GRCh38
NC_000002.11:g.27598416G>T , CM000664.1:g.27598416G>T	GRCh37
NC_000002.10:g.27451920G>T	NCBI36
NG_028219.1:g.10196C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.818G>T MANE Select	ENSP00000233575.2:p.Arg273Leu
ENST00000233575.6:c.818G>T	ENSP00000233575.2:p.Arg273Leu
ENST00000427123.5:c.*628G>T	ENSP00000405399.1:n.*628G>T
ENST00000440760.5:c.*663G>T	ENSP00000399727.1:n.*663G>T
ENST00000453453.1:c.*345G>T	ENSP00000401922.1:n.*345G>T
ENST00000493711.1:n.535G>T
ENST00000537606.5:c.743G>T	ENSP00000439208.1:p.Arg248Leu
NM_001267059.1:c.782G>T	NP_001253988.1:p.Arg261Leu
NM_001267060.1:c.743G>T	NP_001253989.1:p.Arg248Leu
NM_001267061.1:c.758G>T	NP_001253990.1:p.Arg253Leu
NM_014748.3:c.818G>T	NP_055563.1:p.Arg273Leu
NR_049782.1:n.1191G>T
NR_049783.1:n.1164G>T
NR_049784.1:n.1140G>T
NR_049785.1:n.1073G>T
NR_049786.1:n.1022G>T
NR_049787.1:n.873G>T
NR_049788.1:n.803G>T
XM_011533203.1:c.176G>T	XP_011531505.1:p.Arg59Leu
XM_011533203.2:c.176G>T	XP_011531505.1:p.Arg59Leu
XM_017005405.2:c.176G>T	XP_016860894.1:p.Arg59Leu
NM_014748.4:c.818G>T MANE Select	NP_055563.1:p.Arg273Leu
NM_001267059.2:c.782G>T	NP_001253988.1:p.Arg261Leu
NM_001267061.2:c.758G>T	NP_001253990.1:p.Arg253Leu
NR_049782.2:n.1071G>T
NR_049783.2:n.1044G>T
NR_049784.2:n.1020G>T
NR_049785.2:n.953G>T
NR_049786.2:n.902G>T
NR_049787.2:n.753G>T
NR_049788.2:n.683G>T
NM_001267060.2:c.743G>T	NP_001253989.1:p.Arg248Leu