Canonical Allele Identifier: CA346209961

Gene: SNX17

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.778C>A MANE Select	ENSP00000233575.2:p.Leu260Met
ENST00000233575.6:c.778C>A	ENSP00000233575.2:p.Leu260Met
ENST00000427123.5:c.*588C>A	ENSP00000405399.1:n.*588C>A
ENST00000440760.5:c.*623C>A	ENSP00000399727.1:n.*623C>A
ENST00000453453.1:c.*305C>A	ENSP00000401922.1:n.*305C>A
ENST00000493711.1:n.495C>A
ENST00000494893.5:n.954C>A
ENST00000537606.5:c.703C>A	ENSP00000439208.1:p.Leu235Met
NM_001267059.1:c.742C>A	NP_001253988.1:p.Leu248Met
NM_001267060.1:c.703C>A	NP_001253989.1:p.Leu235Met
NM_001267061.1:c.718C>A	NP_001253990.1:p.Leu240Met
NM_014748.3:c.778C>A	NP_055563.1:p.Leu260Met
NR_049782.1:n.1151C>A
NR_049783.1:n.1124C>A
NR_049784.1:n.1100C>A
NR_049785.1:n.1033C>A
NR_049786.1:n.982C>A
NR_049787.1:n.833C>A
NR_049788.1:n.763C>A
XM_011533203.1:c.136C>A	XP_011531505.1:p.Leu46Met
XM_011533203.2:c.136C>A	XP_011531505.1:p.Leu46Met
XM_017005405.2:c.136C>A	XP_016860894.1:p.Leu46Met
NM_014748.4:c.778C>A MANE Select	NP_055563.1:p.Leu260Met
NM_001267059.2:c.742C>A	NP_001253988.1:p.Leu248Met
NM_001267061.2:c.718C>A	NP_001253990.1:p.Leu240Met
NR_049782.2:n.1031C>A
NR_049783.2:n.1004C>A
NR_049784.2:n.980C>A
NR_049785.2:n.913C>A
NR_049786.2:n.862C>A
NR_049787.2:n.713C>A
NR_049788.2:n.643C>A
NM_001267060.2:c.703C>A	NP_001253989.1:p.Leu235Met