Canonical Allele Identifier: CA346209811

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598004A>C (hg19) ; chr2:g.27375137A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375137A>C , CM000664.2:g.27375137A>C	GRCh38
NC_000002.11:g.27598004A>C , CM000664.1:g.27598004A>C	GRCh37
NC_000002.10:g.27451508A>C	NCBI36
NG_009305.1:g.321T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.758A>C MANE Select	ENSP00000233575.2:p.Lys253Thr
ENST00000233575.6:c.758A>C	ENSP00000233575.2:p.Lys253Thr
ENST00000427123.5:c.*568A>C	ENSP00000405399.1:n.*568A>C
ENST00000440760.5:c.*603A>C	ENSP00000399727.1:n.*603A>C
ENST00000453453.1:c.*285A>C	ENSP00000401922.1:n.*285A>C
ENST00000493711.1:n.475A>C
ENST00000494893.5:n.934A>C
ENST00000537606.5:c.683A>C	ENSP00000439208.1:p.Lys228Thr
NM_001267059.1:c.722A>C	NP_001253988.1:p.Lys241Thr
NM_001267060.1:c.683A>C	NP_001253989.1:p.Lys228Thr
NM_001267061.1:c.698A>C	NP_001253990.1:p.Lys233Thr
NM_014748.3:c.758A>C	NP_055563.1:p.Lys253Thr
NR_049782.1:n.1131A>C
NR_049783.1:n.1104A>C
NR_049784.1:n.1080A>C
NR_049785.1:n.1013A>C
NR_049786.1:n.962A>C
NR_049787.1:n.813A>C
NR_049788.1:n.743A>C
XM_011533203.1:c.116A>C	XP_011531505.1:p.Lys39Thr
XM_011533203.2:c.116A>C	XP_011531505.1:p.Lys39Thr
XM_017005405.2:c.116A>C	XP_016860894.1:p.Lys39Thr
NM_014748.4:c.758A>C MANE Select	NP_055563.1:p.Lys253Thr
NM_001267059.2:c.722A>C	NP_001253988.1:p.Lys241Thr
NM_001267061.2:c.698A>C	NP_001253990.1:p.Lys233Thr
NR_049782.2:n.1011A>C
NR_049783.2:n.984A>C
NR_049784.2:n.960A>C
NR_049785.2:n.893A>C
NR_049786.2:n.842A>C
NR_049787.2:n.693A>C
NR_049788.2:n.623A>C
NM_001267060.2:c.683A>C	NP_001253989.1:p.Lys228Thr