Canonical Allele Identifier: CA346210102

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598412T>A (hg19) ; chr2:g.27375545T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375545T>A , CM000664.2:g.27375545T>A	GRCh38
NC_000002.11:g.27598412T>A , CM000664.1:g.27598412T>A	GRCh37
NC_000002.10:g.27451916T>A	NCBI36
NG_028219.1:g.10200A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.814T>A MANE Select	ENSP00000233575.2:p.Leu272Met
ENST00000233575.6:c.814T>A	ENSP00000233575.2:p.Leu272Met
ENST00000427123.5:c.*624T>A	ENSP00000405399.1:n.*624T>A
ENST00000440760.5:c.*659T>A	ENSP00000399727.1:n.*659T>A
ENST00000453453.1:c.*341T>A	ENSP00000401922.1:n.*341T>A
ENST00000493711.1:n.531T>A
ENST00000537606.5:c.739T>A	ENSP00000439208.1:p.Leu247Met
NM_001267059.1:c.778T>A	NP_001253988.1:p.Leu260Met
NM_001267060.1:c.739T>A	NP_001253989.1:p.Leu247Met
NM_001267061.1:c.754T>A	NP_001253990.1:p.Leu252Met
NM_014748.3:c.814T>A	NP_055563.1:p.Leu272Met
NR_049782.1:n.1187T>A
NR_049783.1:n.1160T>A
NR_049784.1:n.1136T>A
NR_049785.1:n.1069T>A
NR_049786.1:n.1018T>A
NR_049787.1:n.869T>A
NR_049788.1:n.799T>A
XM_011533203.1:c.172T>A	XP_011531505.1:p.Leu58Met
XM_011533203.2:c.172T>A	XP_011531505.1:p.Leu58Met
XM_017005405.2:c.172T>A	XP_016860894.1:p.Leu58Met
NM_014748.4:c.814T>A MANE Select	NP_055563.1:p.Leu272Met
NM_001267059.2:c.778T>A	NP_001253988.1:p.Leu260Met
NM_001267061.2:c.754T>A	NP_001253990.1:p.Leu252Met
NR_049782.2:n.1067T>A
NR_049783.2:n.1040T>A
NR_049784.2:n.1016T>A
NR_049785.2:n.949T>A
NR_049786.2:n.898T>A
NR_049787.2:n.749T>A
NR_049788.2:n.679T>A
NM_001267060.2:c.739T>A	NP_001253989.1:p.Leu247Met