Canonical Allele Identifier: CA346210019

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598391A>C (hg19) ; chr2:g.27375524A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375524A>C , CM000664.2:g.27375524A>C	GRCh38
NC_000002.11:g.27598391A>C , CM000664.1:g.27598391A>C	GRCh37
NC_000002.10:g.27451895A>C	NCBI36
NG_028219.1:g.10221T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.793A>C MANE Select	ENSP00000233575.2:p.Thr265Pro
ENST00000233575.6:c.793A>C	ENSP00000233575.2:p.Thr265Pro
ENST00000427123.5:c.*603A>C	ENSP00000405399.1:n.*603A>C
ENST00000440760.5:c.*638A>C	ENSP00000399727.1:n.*638A>C
ENST00000453453.1:c.*320A>C	ENSP00000401922.1:n.*320A>C
ENST00000493711.1:n.510A>C
ENST00000537606.5:c.718A>C	ENSP00000439208.1:p.Thr240Pro
NM_001267059.1:c.757A>C	NP_001253988.1:p.Thr253Pro
NM_001267060.1:c.718A>C	NP_001253989.1:p.Thr240Pro
NM_001267061.1:c.733A>C	NP_001253990.1:p.Thr245Pro
NM_014748.3:c.793A>C	NP_055563.1:p.Thr265Pro
NR_049782.1:n.1166A>C
NR_049783.1:n.1139A>C
NR_049784.1:n.1115A>C
NR_049785.1:n.1048A>C
NR_049786.1:n.997A>C
NR_049787.1:n.848A>C
NR_049788.1:n.778A>C
XM_011533203.1:c.151A>C	XP_011531505.1:p.Thr51Pro
XM_011533203.2:c.151A>C	XP_011531505.1:p.Thr51Pro
XM_017005405.2:c.151A>C	XP_016860894.1:p.Thr51Pro
NM_014748.4:c.793A>C MANE Select	NP_055563.1:p.Thr265Pro
NM_001267059.2:c.757A>C	NP_001253988.1:p.Thr253Pro
NM_001267061.2:c.733A>C	NP_001253990.1:p.Thr245Pro
NR_049782.2:n.1046A>C
NR_049783.2:n.1019A>C
NR_049784.2:n.995A>C
NR_049785.2:n.928A>C
NR_049786.2:n.877A>C
NR_049787.2:n.728A>C
NR_049788.2:n.658A>C
NM_001267060.2:c.718A>C	NP_001253989.1:p.Thr240Pro