Canonical Allele Identifier: CA425606846

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598396G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375529G>C , CM000664.2:g.27375529G>C	GRCh38
NC_000002.11:g.27598396G>C , CM000664.1:g.27598396G>C	GRCh37
NC_000002.10:g.27451900G>C	NCBI36
NG_028219.1:g.10216C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.798G>C MANE Select	ENSP00000233575.2:p.Leu266=
ENST00000233575.6:c.798G>C	ENSP00000233575.2:p.Leu266=
ENST00000427123.5:c.*608G>C	ENSP00000405399.1:n.*608G>C
ENST00000440760.5:c.*643G>C	ENSP00000399727.1:n.*643G>C
ENST00000453453.1:c.*325G>C	ENSP00000401922.1:n.*325G>C
ENST00000493711.1:n.515G>C
ENST00000537606.5:c.723G>C	ENSP00000439208.1:p.Leu241=
NM_001267059.1:c.762G>C	NP_001253988.1:p.Leu254=
NM_001267060.1:c.723G>C	NP_001253989.1:p.Leu241=
NM_001267061.1:c.738G>C	NP_001253990.1:p.Leu246=
NM_014748.3:c.798G>C	NP_055563.1:p.Leu266=
NR_049782.1:n.1171G>C
NR_049783.1:n.1144G>C
NR_049784.1:n.1120G>C
NR_049785.1:n.1053G>C
NR_049786.1:n.1002G>C
NR_049787.1:n.853G>C
NR_049788.1:n.783G>C
XM_011533203.1:c.156G>C	XP_011531505.1:p.Leu52=
XM_011533203.2:c.156G>C	XP_011531505.1:p.Leu52=
XM_017005405.2:c.156G>C	XP_016860894.1:p.Leu52=
NM_014748.4:c.798G>C MANE Select	NP_055563.1:p.Leu266=
NM_001267059.2:c.762G>C	NP_001253988.1:p.Leu254=
NM_001267061.2:c.738G>C	NP_001253990.1:p.Leu246=
NR_049782.2:n.1051G>C
NR_049783.2:n.1024G>C
NR_049784.2:n.1000G>C
NR_049785.2:n.933G>C
NR_049786.2:n.882G>C
NR_049787.2:n.733G>C
NR_049788.2:n.663G>C
NM_001267060.2:c.723G>C	NP_001253989.1:p.Leu241=