Canonical Allele Identifier: CA346209817

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598006G>T (hg19) ; chr2:g.27375139G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375139G>T , CM000664.2:g.27375139G>T	GRCh38
NC_000002.11:g.27598006G>T , CM000664.1:g.27598006G>T	GRCh37
NC_000002.10:g.27451510G>T	NCBI36
NG_009305.1:g.319C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.760G>T MANE Select	ENSP00000233575.2:p.Val254Phe
ENST00000233575.6:c.760G>T	ENSP00000233575.2:p.Val254Phe
ENST00000427123.5:c.*570G>T	ENSP00000405399.1:n.*570G>T
ENST00000440760.5:c.*605G>T	ENSP00000399727.1:n.*605G>T
ENST00000453453.1:c.*287G>T	ENSP00000401922.1:n.*287G>T
ENST00000493711.1:n.477G>T
ENST00000494893.5:n.936G>T
ENST00000537606.5:c.685G>T	ENSP00000439208.1:p.Val229Phe
NM_001267059.1:c.724G>T	NP_001253988.1:p.Val242Phe
NM_001267060.1:c.685G>T	NP_001253989.1:p.Val229Phe
NM_001267061.1:c.700G>T	NP_001253990.1:p.Val234Phe
NM_014748.3:c.760G>T	NP_055563.1:p.Val254Phe
NR_049782.1:n.1133G>T
NR_049783.1:n.1106G>T
NR_049784.1:n.1082G>T
NR_049785.1:n.1015G>T
NR_049786.1:n.964G>T
NR_049787.1:n.815G>T
NR_049788.1:n.745G>T
XM_011533203.1:c.118G>T	XP_011531505.1:p.Val40Phe
XM_011533203.2:c.118G>T	XP_011531505.1:p.Val40Phe
XM_017005405.2:c.118G>T	XP_016860894.1:p.Val40Phe
NM_014748.4:c.760G>T MANE Select	NP_055563.1:p.Val254Phe
NM_001267059.2:c.724G>T	NP_001253988.1:p.Val242Phe
NM_001267061.2:c.700G>T	NP_001253990.1:p.Val234Phe
NR_049782.2:n.1013G>T
NR_049783.2:n.986G>T
NR_049784.2:n.962G>T
NR_049785.2:n.895G>T
NR_049786.2:n.844G>T
NR_049787.2:n.695G>T
NR_049788.2:n.625G>T
NM_001267060.2:c.685G>T	NP_001253989.1:p.Val229Phe