Canonical Allele Identifier: CA346210032

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598395T>C (hg19) ; chr2:g.27375528T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375528T>C , CM000664.2:g.27375528T>C	GRCh38
NC_000002.11:g.27598395T>C , CM000664.1:g.27598395T>C	GRCh37
NC_000002.10:g.27451899T>C	NCBI36
NG_028219.1:g.10217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.797T>C MANE Select	ENSP00000233575.2:p.Leu266Pro
ENST00000233575.6:c.797T>C	ENSP00000233575.2:p.Leu266Pro
ENST00000427123.5:c.*607T>C	ENSP00000405399.1:n.*607T>C
ENST00000440760.5:c.*642T>C	ENSP00000399727.1:n.*642T>C
ENST00000453453.1:c.*324T>C	ENSP00000401922.1:n.*324T>C
ENST00000493711.1:n.514T>C
ENST00000537606.5:c.722T>C	ENSP00000439208.1:p.Leu241Pro
NM_001267059.1:c.761T>C	NP_001253988.1:p.Leu254Pro
NM_001267060.1:c.722T>C	NP_001253989.1:p.Leu241Pro
NM_001267061.1:c.737T>C	NP_001253990.1:p.Leu246Pro
NM_014748.3:c.797T>C	NP_055563.1:p.Leu266Pro
NR_049782.1:n.1170T>C
NR_049783.1:n.1143T>C
NR_049784.1:n.1119T>C
NR_049785.1:n.1052T>C
NR_049786.1:n.1001T>C
NR_049787.1:n.852T>C
NR_049788.1:n.782T>C
XM_011533203.1:c.155T>C	XP_011531505.1:p.Leu52Pro
XM_011533203.2:c.155T>C	XP_011531505.1:p.Leu52Pro
XM_017005405.2:c.155T>C	XP_016860894.1:p.Leu52Pro
NM_014748.4:c.797T>C MANE Select	NP_055563.1:p.Leu266Pro
NM_001267059.2:c.761T>C	NP_001253988.1:p.Leu254Pro
NM_001267061.2:c.737T>C	NP_001253990.1:p.Leu246Pro
NR_049782.2:n.1050T>C
NR_049783.2:n.1023T>C
NR_049784.2:n.999T>C
NR_049785.2:n.932T>C
NR_049786.2:n.881T>C
NR_049787.2:n.732T>C
NR_049788.2:n.662T>C
NM_001267060.2:c.722T>C	NP_001253989.1:p.Leu241Pro