Canonical Allele Identifier: CA346209827

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598012A>C (hg19) ; chr2:g.27375145A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375145A>C , CM000664.2:g.27375145A>C	GRCh38
NC_000002.11:g.27598012A>C , CM000664.1:g.27598012A>C	GRCh37
NC_000002.10:g.27451516A>C	NCBI36
NG_009305.1:g.313T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.766A>C MANE Select	ENSP00000233575.2:p.Lys256Gln
ENST00000233575.6:c.766A>C	ENSP00000233575.2:p.Lys256Gln
ENST00000427123.5:c.*576A>C	ENSP00000405399.1:n.*576A>C
ENST00000440760.5:c.*611A>C	ENSP00000399727.1:n.*611A>C
ENST00000453453.1:c.*293A>C	ENSP00000401922.1:n.*293A>C
ENST00000493711.1:n.483A>C
ENST00000494893.5:n.942A>C
ENST00000537606.5:c.691A>C	ENSP00000439208.1:p.Lys231Gln
NM_001267059.1:c.730A>C	NP_001253988.1:p.Lys244Gln
NM_001267060.1:c.691A>C	NP_001253989.1:p.Lys231Gln
NM_001267061.1:c.706A>C	NP_001253990.1:p.Lys236Gln
NM_014748.3:c.766A>C	NP_055563.1:p.Lys256Gln
NR_049782.1:n.1139A>C
NR_049783.1:n.1112A>C
NR_049784.1:n.1088A>C
NR_049785.1:n.1021A>C
NR_049786.1:n.970A>C
NR_049787.1:n.821A>C
NR_049788.1:n.751A>C
XM_011533203.1:c.124A>C	XP_011531505.1:p.Lys42Gln
XM_011533203.2:c.124A>C	XP_011531505.1:p.Lys42Gln
XM_017005405.2:c.124A>C	XP_016860894.1:p.Lys42Gln
NM_014748.4:c.766A>C MANE Select	NP_055563.1:p.Lys256Gln
NM_001267059.2:c.730A>C	NP_001253988.1:p.Lys244Gln
NM_001267061.2:c.706A>C	NP_001253990.1:p.Lys236Gln
NR_049782.2:n.1019A>C
NR_049783.2:n.992A>C
NR_049784.2:n.968A>C
NR_049785.2:n.901A>C
NR_049786.2:n.850A>C
NR_049787.2:n.701A>C
NR_049788.2:n.631A>C
NM_001267060.2:c.691A>C	NP_001253989.1:p.Lys231Gln