Canonical Allele Identifier: CA346209963

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598376C>G (hg19) ; chr2:g.27375509C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375509C>G , CM000664.2:g.27375509C>G	GRCh38
NC_000002.11:g.27598376C>G , CM000664.1:g.27598376C>G	GRCh37
NC_000002.10:g.27451880C>G	NCBI36
NG_028219.1:g.10236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.778C>G MANE Select	ENSP00000233575.2:p.Leu260Val
ENST00000233575.6:c.778C>G	ENSP00000233575.2:p.Leu260Val
ENST00000427123.5:c.*588C>G	ENSP00000405399.1:n.*588C>G
ENST00000440760.5:c.*623C>G	ENSP00000399727.1:n.*623C>G
ENST00000453453.1:c.*305C>G	ENSP00000401922.1:n.*305C>G
ENST00000493711.1:n.495C>G
ENST00000494893.5:n.954C>G
ENST00000537606.5:c.703C>G	ENSP00000439208.1:p.Leu235Val
NM_001267059.1:c.742C>G	NP_001253988.1:p.Leu248Val
NM_001267060.1:c.703C>G	NP_001253989.1:p.Leu235Val
NM_001267061.1:c.718C>G	NP_001253990.1:p.Leu240Val
NM_014748.3:c.778C>G	NP_055563.1:p.Leu260Val
NR_049782.1:n.1151C>G
NR_049783.1:n.1124C>G
NR_049784.1:n.1100C>G
NR_049785.1:n.1033C>G
NR_049786.1:n.982C>G
NR_049787.1:n.833C>G
NR_049788.1:n.763C>G
XM_011533203.1:c.136C>G	XP_011531505.1:p.Leu46Val
XM_011533203.2:c.136C>G	XP_011531505.1:p.Leu46Val
XM_017005405.2:c.136C>G	XP_016860894.1:p.Leu46Val
NM_014748.4:c.778C>G MANE Select	NP_055563.1:p.Leu260Val
NM_001267059.2:c.742C>G	NP_001253988.1:p.Leu248Val
NM_001267061.2:c.718C>G	NP_001253990.1:p.Leu240Val
NR_049782.2:n.1031C>G
NR_049783.2:n.1004C>G
NR_049784.2:n.980C>G
NR_049785.2:n.913C>G
NR_049786.2:n.862C>G
NR_049787.2:n.713C>G
NR_049788.2:n.643C>G
NM_001267060.2:c.703C>G	NP_001253989.1:p.Leu235Val