Canonical Allele Identifier: CA425415724

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597936A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375069A>C , CM000664.2:g.27375069A>C	GRCh38
NC_000002.11:g.27597936A>C , CM000664.1:g.27597936A>C	GRCh37
NC_000002.10:g.27451440A>C	NCBI36
NG_009305.1:g.389T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.690A>C MANE Select	ENSP00000233575.2:p.Ser230=
ENST00000233575.6:c.690A>C	ENSP00000233575.2:p.Ser230=
ENST00000427123.5:c.*500A>C	ENSP00000405399.1:n.*500A>C
ENST00000440760.5:c.*535A>C	ENSP00000399727.1:n.*535A>C
ENST00000453453.1:c.*217A>C	ENSP00000401922.1:n.*217A>C
ENST00000493711.1:n.407A>C
ENST00000494893.5:n.866A>C
ENST00000537606.5:c.615A>C	ENSP00000439208.1:p.Ser205=
NM_001267059.1:c.654A>C	NP_001253988.1:p.Ser218=
NM_001267060.1:c.615A>C	NP_001253989.1:p.Ser205=
NM_001267061.1:c.630A>C	NP_001253990.1:p.Ser210=
NM_014748.3:c.690A>C	NP_055563.1:p.Ser230=
NR_049782.1:n.1063A>C
NR_049783.1:n.1036A>C
NR_049784.1:n.1012A>C
NR_049785.1:n.945A>C
NR_049786.1:n.894A>C
NR_049787.1:n.745A>C
NR_049788.1:n.675A>C
XM_011533203.1:c.48A>C	XP_011531505.1:p.Ser16=
XM_011533203.2:c.48A>C	XP_011531505.1:p.Ser16=
XM_017005405.2:c.48A>C	XP_016860894.1:p.Ser16=
NM_014748.4:c.690A>C MANE Select	NP_055563.1:p.Ser230=
NM_001267059.2:c.654A>C	NP_001253988.1:p.Ser218=
NM_001267061.2:c.630A>C	NP_001253990.1:p.Ser210=
NR_049782.2:n.943A>C
NR_049783.2:n.916A>C
NR_049784.2:n.892A>C
NR_049785.2:n.825A>C
NR_049786.2:n.774A>C
NR_049787.2:n.625A>C
NR_049788.2:n.555A>C
NM_001267060.2:c.615A>C	NP_001253989.1:p.Ser205=