Canonical Allele Identifier: CA1577391

Gene: SNX17

Linked Data

• dbSNP Id: rs758854166
• ExAC: 2:27597941 T / C
• gnomAD v2: 2-27597941-T-C
• gnomAD v3: 2-27375074-T-C
• gnomAD v4: 2-27375074-T-C
• MyVariant Identifiers: chr2:g.27597941T>C (hg19) ; chr2:g.27375074T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375074T>C , CM000664.2:g.27375074T>C	GRCh38
NC_000002.11:g.27597941T>C , CM000664.1:g.27597941T>C	GRCh37
NC_000002.10:g.27451445T>C	NCBI36
NG_009305.1:g.384A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.695T>C MANE Select	ENSP00000233575.2:p.Ile232Thr
ENST00000233575.6:c.695T>C	ENSP00000233575.2:p.Ile232Thr
ENST00000427123.5:c.*505T>C	ENSP00000405399.1:n.*505T>C
ENST00000440760.5:c.*540T>C	ENSP00000399727.1:n.*540T>C
ENST00000453453.1:c.*222T>C	ENSP00000401922.1:n.*222T>C
ENST00000493711.1:n.412T>C
ENST00000494893.5:n.871T>C
ENST00000537606.5:c.620T>C	ENSP00000439208.1:p.Ile207Thr
NM_001267059.1:c.659T>C	NP_001253988.1:p.Ile220Thr
NM_001267060.1:c.620T>C	NP_001253989.1:p.Ile207Thr
NM_001267061.1:c.635T>C	NP_001253990.1:p.Ile212Thr
NM_014748.3:c.695T>C	NP_055563.1:p.Ile232Thr
NR_049782.1:n.1068T>C
NR_049783.1:n.1041T>C
NR_049784.1:n.1017T>C
NR_049785.1:n.950T>C
NR_049786.1:n.899T>C
NR_049787.1:n.750T>C
NR_049788.1:n.680T>C
XM_011533203.1:c.53T>C	XP_011531505.1:p.Ile18Thr
XM_011533203.2:c.53T>C	XP_011531505.1:p.Ile18Thr
XM_017005405.2:c.53T>C	XP_016860894.1:p.Ile18Thr
NM_014748.4:c.695T>C MANE Select	NP_055563.1:p.Ile232Thr
NM_001267059.2:c.659T>C	NP_001253988.1:p.Ile220Thr
NM_001267061.2:c.635T>C	NP_001253990.1:p.Ile212Thr
NR_049782.2:n.948T>C
NR_049783.2:n.921T>C
NR_049784.2:n.897T>C
NR_049785.2:n.830T>C
NR_049786.2:n.779T>C
NR_049787.2:n.630T>C
NR_049788.2:n.560T>C
NM_001267060.2:c.620T>C	NP_001253989.1:p.Ile207Thr