Canonical Allele Identifier: CA346209709

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597958T>A (hg19) ; chr2:g.27375091T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375091T>A , CM000664.2:g.27375091T>A	GRCh38
NC_000002.11:g.27597958T>A , CM000664.1:g.27597958T>A	GRCh37
NC_000002.10:g.27451462T>A	NCBI36
NG_009305.1:g.367A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.712T>A MANE Select	ENSP00000233575.2:p.Leu238Met
ENST00000233575.6:c.712T>A	ENSP00000233575.2:p.Leu238Met
ENST00000427123.5:c.*522T>A	ENSP00000405399.1:n.*522T>A
ENST00000440760.5:c.*557T>A	ENSP00000399727.1:n.*557T>A
ENST00000453453.1:c.*239T>A	ENSP00000401922.1:n.*239T>A
ENST00000493711.1:n.429T>A
ENST00000494893.5:n.888T>A
ENST00000537606.5:c.637T>A	ENSP00000439208.1:p.Leu213Met
NM_001267059.1:c.676T>A	NP_001253988.1:p.Leu226Met
NM_001267060.1:c.637T>A	NP_001253989.1:p.Leu213Met
NM_001267061.1:c.652T>A	NP_001253990.1:p.Leu218Met
NM_014748.3:c.712T>A	NP_055563.1:p.Leu238Met
NR_049782.1:n.1085T>A
NR_049783.1:n.1058T>A
NR_049784.1:n.1034T>A
NR_049785.1:n.967T>A
NR_049786.1:n.916T>A
NR_049787.1:n.767T>A
NR_049788.1:n.697T>A
XM_011533203.1:c.70T>A	XP_011531505.1:p.Leu24Met
XM_011533203.2:c.70T>A	XP_011531505.1:p.Leu24Met
XM_017005405.2:c.70T>A	XP_016860894.1:p.Leu24Met
NM_014748.4:c.712T>A MANE Select	NP_055563.1:p.Leu238Met
NM_001267059.2:c.676T>A	NP_001253988.1:p.Leu226Met
NM_001267061.2:c.652T>A	NP_001253990.1:p.Leu218Met
NR_049782.2:n.965T>A
NR_049783.2:n.938T>A
NR_049784.2:n.914T>A
NR_049785.2:n.847T>A
NR_049786.2:n.796T>A
NR_049787.2:n.647T>A
NR_049788.2:n.577T>A
NM_001267060.2:c.637T>A	NP_001253989.1:p.Leu213Met