Canonical Allele Identifier: CA346209808

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598003A>C (hg19) ; chr2:g.27375136A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375136A>C , CM000664.2:g.27375136A>C	GRCh38
NC_000002.11:g.27598003A>C , CM000664.1:g.27598003A>C	GRCh37
NC_000002.10:g.27451507A>C	NCBI36
NG_009305.1:g.322T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.757A>C MANE Select	ENSP00000233575.2:p.Lys253Gln
ENST00000233575.6:c.757A>C	ENSP00000233575.2:p.Lys253Gln
ENST00000427123.5:c.*567A>C	ENSP00000405399.1:n.*567A>C
ENST00000440760.5:c.*602A>C	ENSP00000399727.1:n.*602A>C
ENST00000453453.1:c.*284A>C	ENSP00000401922.1:n.*284A>C
ENST00000493711.1:n.474A>C
ENST00000494893.5:n.933A>C
ENST00000537606.5:c.682A>C	ENSP00000439208.1:p.Lys228Gln
NM_001267059.1:c.721A>C	NP_001253988.1:p.Lys241Gln
NM_001267060.1:c.682A>C	NP_001253989.1:p.Lys228Gln
NM_001267061.1:c.697A>C	NP_001253990.1:p.Lys233Gln
NM_014748.3:c.757A>C	NP_055563.1:p.Lys253Gln
NR_049782.1:n.1130A>C
NR_049783.1:n.1103A>C
NR_049784.1:n.1079A>C
NR_049785.1:n.1012A>C
NR_049786.1:n.961A>C
NR_049787.1:n.812A>C
NR_049788.1:n.742A>C
XM_011533203.1:c.115A>C	XP_011531505.1:p.Lys39Gln
XM_011533203.2:c.115A>C	XP_011531505.1:p.Lys39Gln
XM_017005405.2:c.115A>C	XP_016860894.1:p.Lys39Gln
NM_014748.4:c.757A>C MANE Select	NP_055563.1:p.Lys253Gln
NM_001267059.2:c.721A>C	NP_001253988.1:p.Lys241Gln
NM_001267061.2:c.697A>C	NP_001253990.1:p.Lys233Gln
NR_049782.2:n.1010A>C
NR_049783.2:n.983A>C
NR_049784.2:n.959A>C
NR_049785.2:n.892A>C
NR_049786.2:n.841A>C
NR_049787.2:n.692A>C
NR_049788.2:n.622A>C
NM_001267060.2:c.682A>C	NP_001253989.1:p.Lys228Gln