Canonical Allele Identifier: CA346209721

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597964A>C (hg19) ; chr2:g.27375097A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375097A>C , CM000664.2:g.27375097A>C	GRCh38
NC_000002.11:g.27597964A>C , CM000664.1:g.27597964A>C	GRCh37
NC_000002.10:g.27451468A>C	NCBI36
NG_009305.1:g.361T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.718A>C MANE Select	ENSP00000233575.2:p.Thr240Pro
ENST00000233575.6:c.718A>C	ENSP00000233575.2:p.Thr240Pro
ENST00000427123.5:c.*528A>C	ENSP00000405399.1:n.*528A>C
ENST00000440760.5:c.*563A>C	ENSP00000399727.1:n.*563A>C
ENST00000453453.1:c.*245A>C	ENSP00000401922.1:n.*245A>C
ENST00000493711.1:n.435A>C
ENST00000494893.5:n.894A>C
ENST00000537606.5:c.643A>C	ENSP00000439208.1:p.Thr215Pro
NM_001267059.1:c.682A>C	NP_001253988.1:p.Thr228Pro
NM_001267060.1:c.643A>C	NP_001253989.1:p.Thr215Pro
NM_001267061.1:c.658A>C	NP_001253990.1:p.Thr220Pro
NM_014748.3:c.718A>C	NP_055563.1:p.Thr240Pro
NR_049782.1:n.1091A>C
NR_049783.1:n.1064A>C
NR_049784.1:n.1040A>C
NR_049785.1:n.973A>C
NR_049786.1:n.922A>C
NR_049787.1:n.773A>C
NR_049788.1:n.703A>C
XM_011533203.1:c.76A>C	XP_011531505.1:p.Thr26Pro
XM_011533203.2:c.76A>C	XP_011531505.1:p.Thr26Pro
XM_017005405.2:c.76A>C	XP_016860894.1:p.Thr26Pro
NM_014748.4:c.718A>C MANE Select	NP_055563.1:p.Thr240Pro
NM_001267059.2:c.682A>C	NP_001253988.1:p.Thr228Pro
NM_001267061.2:c.658A>C	NP_001253990.1:p.Thr220Pro
NR_049782.2:n.971A>C
NR_049783.2:n.944A>C
NR_049784.2:n.920A>C
NR_049785.2:n.853A>C
NR_049786.2:n.802A>C
NR_049787.2:n.653A>C
NR_049788.2:n.583A>C
NM_001267060.2:c.643A>C	NP_001253989.1:p.Thr215Pro