Canonical Allele Identifier: CA425415728

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597939T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375072T>C , CM000664.2:g.27375072T>C	GRCh38
NC_000002.11:g.27597939T>C , CM000664.1:g.27597939T>C	GRCh37
NC_000002.10:g.27451443T>C	NCBI36
NG_009305.1:g.386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.693T>C MANE Select	ENSP00000233575.2:p.Asp231=
ENST00000233575.6:c.693T>C	ENSP00000233575.2:p.Asp231=
ENST00000427123.5:c.*503T>C	ENSP00000405399.1:n.*503T>C
ENST00000440760.5:c.*538T>C	ENSP00000399727.1:n.*538T>C
ENST00000453453.1:c.*220T>C	ENSP00000401922.1:n.*220T>C
ENST00000493711.1:n.410T>C
ENST00000494893.5:n.869T>C
ENST00000537606.5:c.618T>C	ENSP00000439208.1:p.Asp206=
NM_001267059.1:c.657T>C	NP_001253988.1:p.Asp219=
NM_001267060.1:c.618T>C	NP_001253989.1:p.Asp206=
NM_001267061.1:c.633T>C	NP_001253990.1:p.Asp211=
NM_014748.3:c.693T>C	NP_055563.1:p.Asp231=
NR_049782.1:n.1066T>C
NR_049783.1:n.1039T>C
NR_049784.1:n.1015T>C
NR_049785.1:n.948T>C
NR_049786.1:n.897T>C
NR_049787.1:n.748T>C
NR_049788.1:n.678T>C
XM_011533203.1:c.51T>C	XP_011531505.1:p.Asp17=
XM_011533203.2:c.51T>C	XP_011531505.1:p.Asp17=
XM_017005405.2:c.51T>C	XP_016860894.1:p.Asp17=
NM_014748.4:c.693T>C MANE Select	NP_055563.1:p.Asp231=
NM_001267059.2:c.657T>C	NP_001253988.1:p.Asp219=
NM_001267061.2:c.633T>C	NP_001253990.1:p.Asp211=
NR_049782.2:n.946T>C
NR_049783.2:n.919T>C
NR_049784.2:n.895T>C
NR_049785.2:n.828T>C
NR_049786.2:n.777T>C
NR_049787.2:n.628T>C
NR_049788.2:n.558T>C
NM_001267060.2:c.618T>C	NP_001253989.1:p.Asp206=