Canonical Allele Identifier: CA425606883

Gene: SNX17

Linked Data

• dbSNP Id: rs1572640941
• MyVariant Identifiers: chr2:g.27598412T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375545T>C , CM000664.2:g.27375545T>C	GRCh38
NC_000002.11:g.27598412T>C , CM000664.1:g.27598412T>C	GRCh37
NC_000002.10:g.27451916T>C	NCBI36
NG_028219.1:g.10200A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.814T>C MANE Select	ENSP00000233575.2:p.Leu272=
ENST00000233575.6:c.814T>C	ENSP00000233575.2:p.Leu272=
ENST00000427123.5:c.*624T>C	ENSP00000405399.1:n.*624T>C
ENST00000440760.5:c.*659T>C	ENSP00000399727.1:n.*659T>C
ENST00000453453.1:c.*341T>C	ENSP00000401922.1:n.*341T>C
ENST00000493711.1:n.531T>C
ENST00000537606.5:c.739T>C	ENSP00000439208.1:p.Leu247=
NM_001267059.1:c.778T>C	NP_001253988.1:p.Leu260=
NM_001267060.1:c.739T>C	NP_001253989.1:p.Leu247=
NM_001267061.1:c.754T>C	NP_001253990.1:p.Leu252=
NM_014748.3:c.814T>C	NP_055563.1:p.Leu272=
NR_049782.1:n.1187T>C
NR_049783.1:n.1160T>C
NR_049784.1:n.1136T>C
NR_049785.1:n.1069T>C
NR_049786.1:n.1018T>C
NR_049787.1:n.869T>C
NR_049788.1:n.799T>C
XM_011533203.1:c.172T>C	XP_011531505.1:p.Leu58=
XM_011533203.2:c.172T>C	XP_011531505.1:p.Leu58=
XM_017005405.2:c.172T>C	XP_016860894.1:p.Leu58=
NM_014748.4:c.814T>C MANE Select	NP_055563.1:p.Leu272=
NM_001267059.2:c.778T>C	NP_001253988.1:p.Leu260=
NM_001267061.2:c.754T>C	NP_001253990.1:p.Leu252=
NR_049782.2:n.1067T>C
NR_049783.2:n.1040T>C
NR_049784.2:n.1016T>C
NR_049785.2:n.949T>C
NR_049786.2:n.898T>C
NR_049787.2:n.749T>C
NR_049788.2:n.679T>C
NM_001267060.2:c.739T>C	NP_001253989.1:p.Leu247=