Canonical Allele Identifier: CA346210031

Gene: SNX17

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.797T>A MANE Select	ENSP00000233575.2:p.Leu266Gln
ENST00000233575.6:c.797T>A	ENSP00000233575.2:p.Leu266Gln
ENST00000427123.5:c.*607T>A	ENSP00000405399.1:n.*607T>A
ENST00000440760.5:c.*642T>A	ENSP00000399727.1:n.*642T>A
ENST00000453453.1:c.*324T>A	ENSP00000401922.1:n.*324T>A
ENST00000493711.1:n.514T>A
ENST00000537606.5:c.722T>A	ENSP00000439208.1:p.Leu241Gln
NM_001267059.1:c.761T>A	NP_001253988.1:p.Leu254Gln
NM_001267060.1:c.722T>A	NP_001253989.1:p.Leu241Gln
NM_001267061.1:c.737T>A	NP_001253990.1:p.Leu246Gln
NM_014748.3:c.797T>A	NP_055563.1:p.Leu266Gln
NR_049782.1:n.1170T>A
NR_049783.1:n.1143T>A
NR_049784.1:n.1119T>A
NR_049785.1:n.1052T>A
NR_049786.1:n.1001T>A
NR_049787.1:n.852T>A
NR_049788.1:n.782T>A
XM_011533203.1:c.155T>A	XP_011531505.1:p.Leu52Gln
XM_011533203.2:c.155T>A	XP_011531505.1:p.Leu52Gln
XM_017005405.2:c.155T>A	XP_016860894.1:p.Leu52Gln
NM_014748.4:c.797T>A MANE Select	NP_055563.1:p.Leu266Gln
NM_001267059.2:c.761T>A	NP_001253988.1:p.Leu254Gln
NM_001267061.2:c.737T>A	NP_001253990.1:p.Leu246Gln
NR_049782.2:n.1050T>A
NR_049783.2:n.1023T>A
NR_049784.2:n.999T>A
NR_049785.2:n.932T>A
NR_049786.2:n.881T>A
NR_049787.2:n.732T>A
NR_049788.2:n.662T>A
NM_001267060.2:c.722T>A	NP_001253989.1:p.Leu241Gln