Canonical Allele Identifier: CA346210103

Gene: SNX17

Linked Data

• COSMIC: COSM1019664
• MyVariant Identifiers: chr2:g.27598412T>G (hg19) ; chr2:g.27375545T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375545T>G , CM000664.2:g.27375545T>G	GRCh38
NC_000002.11:g.27598412T>G , CM000664.1:g.27598412T>G	GRCh37
NC_000002.10:g.27451916T>G	NCBI36
NG_028219.1:g.10200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.814T>G MANE Select	ENSP00000233575.2:p.Leu272Val
ENST00000233575.6:c.814T>G	ENSP00000233575.2:p.Leu272Val
ENST00000427123.5:c.*624T>G	ENSP00000405399.1:n.*624T>G
ENST00000440760.5:c.*659T>G	ENSP00000399727.1:n.*659T>G
ENST00000453453.1:c.*341T>G	ENSP00000401922.1:n.*341T>G
ENST00000493711.1:n.531T>G
ENST00000537606.5:c.739T>G	ENSP00000439208.1:p.Leu247Val
NM_001267059.1:c.778T>G	NP_001253988.1:p.Leu260Val
NM_001267060.1:c.739T>G	NP_001253989.1:p.Leu247Val
NM_001267061.1:c.754T>G	NP_001253990.1:p.Leu252Val
NM_014748.3:c.814T>G	NP_055563.1:p.Leu272Val
NR_049782.1:n.1187T>G
NR_049783.1:n.1160T>G
NR_049784.1:n.1136T>G
NR_049785.1:n.1069T>G
NR_049786.1:n.1018T>G
NR_049787.1:n.869T>G
NR_049788.1:n.799T>G
XM_011533203.1:c.172T>G	XP_011531505.1:p.Leu58Val
XM_011533203.2:c.172T>G	XP_011531505.1:p.Leu58Val
XM_017005405.2:c.172T>G	XP_016860894.1:p.Leu58Val
NM_014748.4:c.814T>G MANE Select	NP_055563.1:p.Leu272Val
NM_001267059.2:c.778T>G	NP_001253988.1:p.Leu260Val
NM_001267061.2:c.754T>G	NP_001253990.1:p.Leu252Val
NR_049782.2:n.1067T>G
NR_049783.2:n.1040T>G
NR_049784.2:n.1016T>G
NR_049785.2:n.949T>G
NR_049786.2:n.898T>G
NR_049787.2:n.749T>G
NR_049788.2:n.679T>G
NM_001267060.2:c.739T>G	NP_001253989.1:p.Leu247Val