Canonical Allele Identifier: CA346209819

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598007T>C (hg19) ; chr2:g.27375140T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375140T>C , CM000664.2:g.27375140T>C	GRCh38
NC_000002.11:g.27598007T>C , CM000664.1:g.27598007T>C	GRCh37
NC_000002.10:g.27451511T>C	NCBI36
NG_009305.1:g.318A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.761T>C MANE Select	ENSP00000233575.2:p.Val254Ala
ENST00000233575.6:c.761T>C	ENSP00000233575.2:p.Val254Ala
ENST00000427123.5:c.*571T>C	ENSP00000405399.1:n.*571T>C
ENST00000440760.5:c.*606T>C	ENSP00000399727.1:n.*606T>C
ENST00000453453.1:c.*288T>C	ENSP00000401922.1:n.*288T>C
ENST00000493711.1:n.478T>C
ENST00000494893.5:n.937T>C
ENST00000537606.5:c.686T>C	ENSP00000439208.1:p.Val229Ala
NM_001267059.1:c.725T>C	NP_001253988.1:p.Val242Ala
NM_001267060.1:c.686T>C	NP_001253989.1:p.Val229Ala
NM_001267061.1:c.701T>C	NP_001253990.1:p.Val234Ala
NM_014748.3:c.761T>C	NP_055563.1:p.Val254Ala
NR_049782.1:n.1134T>C
NR_049783.1:n.1107T>C
NR_049784.1:n.1083T>C
NR_049785.1:n.1016T>C
NR_049786.1:n.965T>C
NR_049787.1:n.816T>C
NR_049788.1:n.746T>C
XM_011533203.1:c.119T>C	XP_011531505.1:p.Val40Ala
XM_011533203.2:c.119T>C	XP_011531505.1:p.Val40Ala
XM_017005405.2:c.119T>C	XP_016860894.1:p.Val40Ala
NM_014748.4:c.761T>C MANE Select	NP_055563.1:p.Val254Ala
NM_001267059.2:c.725T>C	NP_001253988.1:p.Val242Ala
NM_001267061.2:c.701T>C	NP_001253990.1:p.Val234Ala
NR_049782.2:n.1014T>C
NR_049783.2:n.987T>C
NR_049784.2:n.963T>C
NR_049785.2:n.896T>C
NR_049786.2:n.845T>C
NR_049787.2:n.696T>C
NR_049788.2:n.626T>C
NM_001267060.2:c.686T>C	NP_001253989.1:p.Val229Ala