Canonical Allele Identifier: CA346209965

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598377T>A (hg19) ; chr2:g.27375510T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375510T>A , CM000664.2:g.27375510T>A	GRCh38
NC_000002.11:g.27598377T>A , CM000664.1:g.27598377T>A	GRCh37
NC_000002.10:g.27451881T>A	NCBI36
NG_028219.1:g.10235A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.779T>A MANE Select	ENSP00000233575.2:p.Leu260Gln
ENST00000233575.6:c.779T>A	ENSP00000233575.2:p.Leu260Gln
ENST00000427123.5:c.*589T>A	ENSP00000405399.1:n.*589T>A
ENST00000440760.5:c.*624T>A	ENSP00000399727.1:n.*624T>A
ENST00000453453.1:c.*306T>A	ENSP00000401922.1:n.*306T>A
ENST00000493711.1:n.496T>A
ENST00000494893.5:n.955T>A
ENST00000537606.5:c.704T>A	ENSP00000439208.1:p.Leu235Gln
NM_001267059.1:c.743T>A	NP_001253988.1:p.Leu248Gln
NM_001267060.1:c.704T>A	NP_001253989.1:p.Leu235Gln
NM_001267061.1:c.719T>A	NP_001253990.1:p.Leu240Gln
NM_014748.3:c.779T>A	NP_055563.1:p.Leu260Gln
NR_049782.1:n.1152T>A
NR_049783.1:n.1125T>A
NR_049784.1:n.1101T>A
NR_049785.1:n.1034T>A
NR_049786.1:n.983T>A
NR_049787.1:n.834T>A
NR_049788.1:n.764T>A
XM_011533203.1:c.137T>A	XP_011531505.1:p.Leu46Gln
XM_011533203.2:c.137T>A	XP_011531505.1:p.Leu46Gln
XM_017005405.2:c.137T>A	XP_016860894.1:p.Leu46Gln
NM_014748.4:c.779T>A MANE Select	NP_055563.1:p.Leu260Gln
NM_001267059.2:c.743T>A	NP_001253988.1:p.Leu248Gln
NM_001267061.2:c.719T>A	NP_001253990.1:p.Leu240Gln
NR_049782.2:n.1032T>A
NR_049783.2:n.1005T>A
NR_049784.2:n.981T>A
NR_049785.2:n.914T>A
NR_049786.2:n.863T>A
NR_049787.2:n.714T>A
NR_049788.2:n.644T>A
NM_001267060.2:c.704T>A	NP_001253989.1:p.Leu235Gln