Canonical Allele Identifier: CA346209730

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597968A>C (hg19) ; chr2:g.27375101A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375101A>C , CM000664.2:g.27375101A>C	GRCh38
NC_000002.11:g.27597968A>C , CM000664.1:g.27597968A>C	GRCh37
NC_000002.10:g.27451472A>C	NCBI36
NG_009305.1:g.357T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.722A>C MANE Select	ENSP00000233575.2:p.Lys241Thr
ENST00000233575.6:c.722A>C	ENSP00000233575.2:p.Lys241Thr
ENST00000427123.5:c.*532A>C	ENSP00000405399.1:n.*532A>C
ENST00000440760.5:c.*567A>C	ENSP00000399727.1:n.*567A>C
ENST00000453453.1:c.*249A>C	ENSP00000401922.1:n.*249A>C
ENST00000493711.1:n.439A>C
ENST00000494893.5:n.898A>C
ENST00000537606.5:c.647A>C	ENSP00000439208.1:p.Lys216Thr
NM_001267059.1:c.686A>C	NP_001253988.1:p.Lys229Thr
NM_001267060.1:c.647A>C	NP_001253989.1:p.Lys216Thr
NM_001267061.1:c.662A>C	NP_001253990.1:p.Lys221Thr
NM_014748.3:c.722A>C	NP_055563.1:p.Lys241Thr
NR_049782.1:n.1095A>C
NR_049783.1:n.1068A>C
NR_049784.1:n.1044A>C
NR_049785.1:n.977A>C
NR_049786.1:n.926A>C
NR_049787.1:n.777A>C
NR_049788.1:n.707A>C
XM_011533203.1:c.80A>C	XP_011531505.1:p.Lys27Thr
XM_011533203.2:c.80A>C	XP_011531505.1:p.Lys27Thr
XM_017005405.2:c.80A>C	XP_016860894.1:p.Lys27Thr
NM_014748.4:c.722A>C MANE Select	NP_055563.1:p.Lys241Thr
NM_001267059.2:c.686A>C	NP_001253988.1:p.Lys229Thr
NM_001267061.2:c.662A>C	NP_001253990.1:p.Lys221Thr
NR_049782.2:n.975A>C
NR_049783.2:n.948A>C
NR_049784.2:n.924A>C
NR_049785.2:n.857A>C
NR_049786.2:n.806A>C
NR_049787.2:n.657A>C
NR_049788.2:n.587A>C
NM_001267060.2:c.647A>C	NP_001253989.1:p.Lys216Thr