Canonical Allele Identifier: CA346209787

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597994C>A (hg19) ; chr2:g.27375127C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375127C>A , CM000664.2:g.27375127C>A	GRCh38
NC_000002.11:g.27597994C>A , CM000664.1:g.27597994C>A	GRCh37
NC_000002.10:g.27451498C>A	NCBI36
NG_009305.1:g.331G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.748C>A MANE Select	ENSP00000233575.2:p.Leu250Met
ENST00000233575.6:c.748C>A	ENSP00000233575.2:p.Leu250Met
ENST00000427123.5:c.*558C>A	ENSP00000405399.1:n.*558C>A
ENST00000440760.5:c.*593C>A	ENSP00000399727.1:n.*593C>A
ENST00000453453.1:c.*275C>A	ENSP00000401922.1:n.*275C>A
ENST00000493711.1:n.465C>A
ENST00000494893.5:n.924C>A
ENST00000537606.5:c.673C>A	ENSP00000439208.1:p.Leu225Met
NM_001267059.1:c.712C>A	NP_001253988.1:p.Leu238Met
NM_001267060.1:c.673C>A	NP_001253989.1:p.Leu225Met
NM_001267061.1:c.688C>A	NP_001253990.1:p.Leu230Met
NM_014748.3:c.748C>A	NP_055563.1:p.Leu250Met
NR_049782.1:n.1121C>A
NR_049783.1:n.1094C>A
NR_049784.1:n.1070C>A
NR_049785.1:n.1003C>A
NR_049786.1:n.952C>A
NR_049787.1:n.803C>A
NR_049788.1:n.733C>A
XM_011533203.1:c.106C>A	XP_011531505.1:p.Leu36Met
XM_011533203.2:c.106C>A	XP_011531505.1:p.Leu36Met
XM_017005405.2:c.106C>A	XP_016860894.1:p.Leu36Met
NM_014748.4:c.748C>A MANE Select	NP_055563.1:p.Leu250Met
NM_001267059.2:c.712C>A	NP_001253988.1:p.Leu238Met
NM_001267061.2:c.688C>A	NP_001253990.1:p.Leu230Met
NR_049782.2:n.1001C>A
NR_049783.2:n.974C>A
NR_049784.2:n.950C>A
NR_049785.2:n.883C>A
NR_049786.2:n.832C>A
NR_049787.2:n.683C>A
NR_049788.2:n.613C>A
NM_001267060.2:c.673C>A	NP_001253989.1:p.Leu225Met