Canonical Allele Identifier: CA346210012

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598389A>T (hg19) ; chr2:g.27375522A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375522A>T , CM000664.2:g.27375522A>T	GRCh38
NC_000002.11:g.27598389A>T , CM000664.1:g.27598389A>T	GRCh37
NC_000002.10:g.27451893A>T	NCBI36
NG_028219.1:g.10223T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.791A>T MANE Select	ENSP00000233575.2:p.Gln264Leu
ENST00000233575.6:c.791A>T	ENSP00000233575.2:p.Gln264Leu
ENST00000427123.5:c.*601A>T	ENSP00000405399.1:n.*601A>T
ENST00000440760.5:c.*636A>T	ENSP00000399727.1:n.*636A>T
ENST00000453453.1:c.*318A>T	ENSP00000401922.1:n.*318A>T
ENST00000493711.1:n.508A>T
ENST00000537606.5:c.716A>T	ENSP00000439208.1:p.Gln239Leu
NM_001267059.1:c.755A>T	NP_001253988.1:p.Gln252Leu
NM_001267060.1:c.716A>T	NP_001253989.1:p.Gln239Leu
NM_001267061.1:c.731A>T	NP_001253990.1:p.Gln244Leu
NM_014748.3:c.791A>T	NP_055563.1:p.Gln264Leu
NR_049782.1:n.1164A>T
NR_049783.1:n.1137A>T
NR_049784.1:n.1113A>T
NR_049785.1:n.1046A>T
NR_049786.1:n.995A>T
NR_049787.1:n.846A>T
NR_049788.1:n.776A>T
XM_011533203.1:c.149A>T	XP_011531505.1:p.Gln50Leu
XM_011533203.2:c.149A>T	XP_011531505.1:p.Gln50Leu
XM_017005405.2:c.149A>T	XP_016860894.1:p.Gln50Leu
NM_014748.4:c.791A>T MANE Select	NP_055563.1:p.Gln264Leu
NM_001267059.2:c.755A>T	NP_001253988.1:p.Gln252Leu
NM_001267061.2:c.731A>T	NP_001253990.1:p.Gln244Leu
NR_049782.2:n.1044A>T
NR_049783.2:n.1017A>T
NR_049784.2:n.993A>T
NR_049785.2:n.926A>T
NR_049786.2:n.875A>T
NR_049787.2:n.726A>T
NR_049788.2:n.656A>T
NM_001267060.2:c.716A>T	NP_001253989.1:p.Gln239Leu