Canonical Allele Identifier: CA346210097

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598410A>T (hg19) ; chr2:g.27375543A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375543A>T , CM000664.2:g.27375543A>T	GRCh38
NC_000002.11:g.27598410A>T , CM000664.1:g.27598410A>T	GRCh37
NC_000002.10:g.27451914A>T	NCBI36
NG_028219.1:g.10202T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.812A>T MANE Select	ENSP00000233575.2:p.Tyr271Phe
ENST00000233575.6:c.812A>T	ENSP00000233575.2:p.Tyr271Phe
ENST00000427123.5:c.*622A>T	ENSP00000405399.1:n.*622A>T
ENST00000440760.5:c.*657A>T	ENSP00000399727.1:n.*657A>T
ENST00000453453.1:c.*339A>T	ENSP00000401922.1:n.*339A>T
ENST00000493711.1:n.529A>T
ENST00000537606.5:c.737A>T	ENSP00000439208.1:p.Tyr246Phe
NM_001267059.1:c.776A>T	NP_001253988.1:p.Tyr259Phe
NM_001267060.1:c.737A>T	NP_001253989.1:p.Tyr246Phe
NM_001267061.1:c.752A>T	NP_001253990.1:p.Tyr251Phe
NM_014748.3:c.812A>T	NP_055563.1:p.Tyr271Phe
NR_049782.1:n.1185A>T
NR_049783.1:n.1158A>T
NR_049784.1:n.1134A>T
NR_049785.1:n.1067A>T
NR_049786.1:n.1016A>T
NR_049787.1:n.867A>T
NR_049788.1:n.797A>T
XM_011533203.1:c.170A>T	XP_011531505.1:p.Tyr57Phe
XM_011533203.2:c.170A>T	XP_011531505.1:p.Tyr57Phe
XM_017005405.2:c.170A>T	XP_016860894.1:p.Tyr57Phe
NM_014748.4:c.812A>T MANE Select	NP_055563.1:p.Tyr271Phe
NM_001267059.2:c.776A>T	NP_001253988.1:p.Tyr259Phe
NM_001267061.2:c.752A>T	NP_001253990.1:p.Tyr251Phe
NR_049782.2:n.1065A>T
NR_049783.2:n.1038A>T
NR_049784.2:n.1014A>T
NR_049785.2:n.947A>T
NR_049786.2:n.896A>T
NR_049787.2:n.747A>T
NR_049788.2:n.677A>T
NM_001267060.2:c.737A>T	NP_001253989.1:p.Tyr246Phe