Canonical Allele Identifier: CA346209727

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597967A>C (hg19) ; chr2:g.27375100A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375100A>C , CM000664.2:g.27375100A>C	GRCh38
NC_000002.11:g.27597967A>C , CM000664.1:g.27597967A>C	GRCh37
NC_000002.10:g.27451471A>C	NCBI36
NG_009305.1:g.358T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.721A>C MANE Select	ENSP00000233575.2:p.Lys241Gln
ENST00000233575.6:c.721A>C	ENSP00000233575.2:p.Lys241Gln
ENST00000427123.5:c.*531A>C	ENSP00000405399.1:n.*531A>C
ENST00000440760.5:c.*566A>C	ENSP00000399727.1:n.*566A>C
ENST00000453453.1:c.*248A>C	ENSP00000401922.1:n.*248A>C
ENST00000493711.1:n.438A>C
ENST00000494893.5:n.897A>C
ENST00000537606.5:c.646A>C	ENSP00000439208.1:p.Lys216Gln
NM_001267059.1:c.685A>C	NP_001253988.1:p.Lys229Gln
NM_001267060.1:c.646A>C	NP_001253989.1:p.Lys216Gln
NM_001267061.1:c.661A>C	NP_001253990.1:p.Lys221Gln
NM_014748.3:c.721A>C	NP_055563.1:p.Lys241Gln
NR_049782.1:n.1094A>C
NR_049783.1:n.1067A>C
NR_049784.1:n.1043A>C
NR_049785.1:n.976A>C
NR_049786.1:n.925A>C
NR_049787.1:n.776A>C
NR_049788.1:n.706A>C
XM_011533203.1:c.79A>C	XP_011531505.1:p.Lys27Gln
XM_011533203.2:c.79A>C	XP_011531505.1:p.Lys27Gln
XM_017005405.2:c.79A>C	XP_016860894.1:p.Lys27Gln
NM_014748.4:c.721A>C MANE Select	NP_055563.1:p.Lys241Gln
NM_001267059.2:c.685A>C	NP_001253988.1:p.Lys229Gln
NM_001267061.2:c.661A>C	NP_001253990.1:p.Lys221Gln
NR_049782.2:n.974A>C
NR_049783.2:n.947A>C
NR_049784.2:n.923A>C
NR_049785.2:n.856A>C
NR_049786.2:n.805A>C
NR_049787.2:n.656A>C
NR_049788.2:n.586A>C
NM_001267060.2:c.646A>C	NP_001253989.1:p.Lys216Gln