Canonical Allele Identifier: CA346209647

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597928A>C (hg19) ; chr2:g.27375061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375061A>C , CM000664.2:g.27375061A>C	GRCh38
NC_000002.11:g.27597928A>C , CM000664.1:g.27597928A>C	GRCh37
NC_000002.10:g.27451432A>C	NCBI36
NG_009305.1:g.397T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.682A>C MANE Select	ENSP00000233575.2:p.Thr228Pro
ENST00000233575.6:c.682A>C	ENSP00000233575.2:p.Thr228Pro
ENST00000427123.5:c.*492A>C	ENSP00000405399.1:n.*492A>C
ENST00000440760.5:c.*527A>C	ENSP00000399727.1:n.*527A>C
ENST00000453453.1:c.*209A>C	ENSP00000401922.1:n.*209A>C
ENST00000493711.1:n.399A>C
ENST00000494893.5:n.858A>C
ENST00000537606.5:c.607A>C	ENSP00000439208.1:p.Thr203Pro
NM_001267059.1:c.646A>C	NP_001253988.1:p.Thr216Pro
NM_001267060.1:c.607A>C	NP_001253989.1:p.Thr203Pro
NM_001267061.1:c.622A>C	NP_001253990.1:p.Thr208Pro
NM_014748.3:c.682A>C	NP_055563.1:p.Thr228Pro
NR_049782.1:n.1055A>C
NR_049783.1:n.1028A>C
NR_049784.1:n.1004A>C
NR_049785.1:n.937A>C
NR_049786.1:n.886A>C
NR_049787.1:n.737A>C
NR_049788.1:n.667A>C
XM_011533203.1:c.40A>C	XP_011531505.1:p.Thr14Pro
XM_011533203.2:c.40A>C	XP_011531505.1:p.Thr14Pro
XM_017005405.2:c.40A>C	XP_016860894.1:p.Thr14Pro
NM_014748.4:c.682A>C MANE Select	NP_055563.1:p.Thr228Pro
NM_001267059.2:c.646A>C	NP_001253988.1:p.Thr216Pro
NM_001267061.2:c.622A>C	NP_001253990.1:p.Thr208Pro
NR_049782.2:n.935A>C
NR_049783.2:n.908A>C
NR_049784.2:n.884A>C
NR_049785.2:n.817A>C
NR_049786.2:n.766A>C
NR_049787.2:n.617A>C
NR_049788.2:n.547A>C
NM_001267060.2:c.607A>C	NP_001253989.1:p.Thr203Pro