Canonical Allele Identifier: CA425415758

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597958T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.712T>C MANE Select	ENSP00000233575.2:p.Leu238=
ENST00000233575.6:c.712T>C	ENSP00000233575.2:p.Leu238=
ENST00000427123.5:c.*522T>C	ENSP00000405399.1:n.*522T>C
ENST00000440760.5:c.*557T>C	ENSP00000399727.1:n.*557T>C
ENST00000453453.1:c.*239T>C	ENSP00000401922.1:n.*239T>C
ENST00000493711.1:n.429T>C
ENST00000494893.5:n.888T>C
ENST00000537606.5:c.637T>C	ENSP00000439208.1:p.Leu213=
NM_001267059.1:c.676T>C	NP_001253988.1:p.Leu226=
NM_001267060.1:c.637T>C	NP_001253989.1:p.Leu213=
NM_001267061.1:c.652T>C	NP_001253990.1:p.Leu218=
NM_014748.3:c.712T>C	NP_055563.1:p.Leu238=
NR_049782.1:n.1085T>C
NR_049783.1:n.1058T>C
NR_049784.1:n.1034T>C
NR_049785.1:n.967T>C
NR_049786.1:n.916T>C
NR_049787.1:n.767T>C
NR_049788.1:n.697T>C
XM_011533203.1:c.70T>C	XP_011531505.1:p.Leu24=
XM_011533203.2:c.70T>C	XP_011531505.1:p.Leu24=
XM_017005405.2:c.70T>C	XP_016860894.1:p.Leu24=
NM_014748.4:c.712T>C MANE Select	NP_055563.1:p.Leu238=
NM_001267059.2:c.676T>C	NP_001253988.1:p.Leu226=
NM_001267061.2:c.652T>C	NP_001253990.1:p.Leu218=
NR_049782.2:n.965T>C
NR_049783.2:n.938T>C
NR_049784.2:n.914T>C
NR_049785.2:n.847T>C
NR_049786.2:n.796T>C
NR_049787.2:n.647T>C
NR_049788.2:n.577T>C
NM_001267060.2:c.637T>C	NP_001253989.1:p.Leu213=