Canonical Allele Identifier: CA346209999

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598386C>T (hg19) ; chr2:g.27375519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375519C>T , CM000664.2:g.27375519C>T	GRCh38
NC_000002.11:g.27598386C>T , CM000664.1:g.27598386C>T	GRCh37
NC_000002.10:g.27451890C>T	NCBI36
NG_028219.1:g.10226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.788C>T MANE Select	ENSP00000233575.2:p.Ala263Val
ENST00000233575.6:c.788C>T	ENSP00000233575.2:p.Ala263Val
ENST00000427123.5:c.*598C>T	ENSP00000405399.1:n.*598C>T
ENST00000440760.5:c.*633C>T	ENSP00000399727.1:n.*633C>T
ENST00000453453.1:c.*315C>T	ENSP00000401922.1:n.*315C>T
ENST00000493711.1:n.505C>T
ENST00000494893.5:n.964C>T
ENST00000537606.5:c.713C>T	ENSP00000439208.1:p.Ala238Val
NM_001267059.1:c.752C>T	NP_001253988.1:p.Ala251Val
NM_001267060.1:c.713C>T	NP_001253989.1:p.Ala238Val
NM_001267061.1:c.728C>T	NP_001253990.1:p.Ala243Val
NM_014748.3:c.788C>T	NP_055563.1:p.Ala263Val
NR_049782.1:n.1161C>T
NR_049783.1:n.1134C>T
NR_049784.1:n.1110C>T
NR_049785.1:n.1043C>T
NR_049786.1:n.992C>T
NR_049787.1:n.843C>T
NR_049788.1:n.773C>T
XM_011533203.1:c.146C>T	XP_011531505.1:p.Ala49Val
XM_011533203.2:c.146C>T	XP_011531505.1:p.Ala49Val
XM_017005405.2:c.146C>T	XP_016860894.1:p.Ala49Val
NM_014748.4:c.788C>T MANE Select	NP_055563.1:p.Ala263Val
NM_001267059.2:c.752C>T	NP_001253988.1:p.Ala251Val
NM_001267061.2:c.728C>T	NP_001253990.1:p.Ala243Val
NR_049782.2:n.1041C>T
NR_049783.2:n.1014C>T
NR_049784.2:n.990C>T
NR_049785.2:n.923C>T
NR_049786.2:n.872C>T
NR_049787.2:n.723C>T
NR_049788.2:n.653C>T
NM_001267060.2:c.713C>T	NP_001253989.1:p.Ala238Val