Canonical Allele Identifier: CA346210001

Gene: SNX17

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.788C>A MANE Select	ENSP00000233575.2:p.Ala263Asp
ENST00000233575.6:c.788C>A	ENSP00000233575.2:p.Ala263Asp
ENST00000427123.5:c.*598C>A	ENSP00000405399.1:n.*598C>A
ENST00000440760.5:c.*633C>A	ENSP00000399727.1:n.*633C>A
ENST00000453453.1:c.*315C>A	ENSP00000401922.1:n.*315C>A
ENST00000493711.1:n.505C>A
ENST00000494893.5:n.964C>A
ENST00000537606.5:c.713C>A	ENSP00000439208.1:p.Ala238Asp
NM_001267059.1:c.752C>A	NP_001253988.1:p.Ala251Asp
NM_001267060.1:c.713C>A	NP_001253989.1:p.Ala238Asp
NM_001267061.1:c.728C>A	NP_001253990.1:p.Ala243Asp
NM_014748.3:c.788C>A	NP_055563.1:p.Ala263Asp
NR_049782.1:n.1161C>A
NR_049783.1:n.1134C>A
NR_049784.1:n.1110C>A
NR_049785.1:n.1043C>A
NR_049786.1:n.992C>A
NR_049787.1:n.843C>A
NR_049788.1:n.773C>A
XM_011533203.1:c.146C>A	XP_011531505.1:p.Ala49Asp
XM_011533203.2:c.146C>A	XP_011531505.1:p.Ala49Asp
XM_017005405.2:c.146C>A	XP_016860894.1:p.Ala49Asp
NM_014748.4:c.788C>A MANE Select	NP_055563.1:p.Ala263Asp
NM_001267059.2:c.752C>A	NP_001253988.1:p.Ala251Asp
NM_001267061.2:c.728C>A	NP_001253990.1:p.Ala243Asp
NR_049782.2:n.1041C>A
NR_049783.2:n.1014C>A
NR_049784.2:n.990C>A
NR_049785.2:n.923C>A
NR_049786.2:n.872C>A
NR_049787.2:n.723C>A
NR_049788.2:n.653C>A
NM_001267060.2:c.713C>A	NP_001253989.1:p.Ala238Asp