Canonical Allele Identifier: CA1577400

Gene: SNX17

Linked Data

• dbSNP Id: rs770828684
• ExAC: 2:27597979 C / T
• gnomAD v2: 2-27597979-C-T
• gnomAD v3: 2-27375112-C-T
• gnomAD v4: 2-27375112-C-T
• MyVariant Identifiers: chr2:g.27597979C>T (hg19) ; chr2:g.27375112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375112C>T , CM000664.2:g.27375112C>T	GRCh38
NC_000002.11:g.27597979C>T , CM000664.1:g.27597979C>T	GRCh37
NC_000002.10:g.27451483C>T	NCBI36
NG_009305.1:g.346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.733C>T MANE Select	ENSP00000233575.2:p.Arg245Trp
ENST00000233575.6:c.733C>T	ENSP00000233575.2:p.Arg245Trp
ENST00000427123.5:c.*543C>T	ENSP00000405399.1:n.*543C>T
ENST00000440760.5:c.*578C>T	ENSP00000399727.1:n.*578C>T
ENST00000453453.1:c.*260C>T	ENSP00000401922.1:n.*260C>T
ENST00000493711.1:n.450C>T
ENST00000494893.5:n.909C>T
ENST00000537606.5:c.658C>T	ENSP00000439208.1:p.Arg220Trp
NM_001267059.1:c.697C>T	NP_001253988.1:p.Arg233Trp
NM_001267060.1:c.658C>T	NP_001253989.1:p.Arg220Trp
NM_001267061.1:c.673C>T	NP_001253990.1:p.Arg225Trp
NM_014748.3:c.733C>T	NP_055563.1:p.Arg245Trp
NR_049782.1:n.1106C>T
NR_049783.1:n.1079C>T
NR_049784.1:n.1055C>T
NR_049785.1:n.988C>T
NR_049786.1:n.937C>T
NR_049787.1:n.788C>T
NR_049788.1:n.718C>T
XM_011533203.1:c.91C>T	XP_011531505.1:p.Arg31Trp
XM_011533203.2:c.91C>T	XP_011531505.1:p.Arg31Trp
XM_017005405.2:c.91C>T	XP_016860894.1:p.Arg31Trp
NM_014748.4:c.733C>T MANE Select	NP_055563.1:p.Arg245Trp
NM_001267059.2:c.697C>T	NP_001253988.1:p.Arg233Trp
NM_001267061.2:c.673C>T	NP_001253990.1:p.Arg225Trp
NR_049782.2:n.986C>T
NR_049783.2:n.959C>T
NR_049784.2:n.935C>T
NR_049785.2:n.868C>T
NR_049786.2:n.817C>T
NR_049787.2:n.668C>T
NR_049788.2:n.598C>T
NM_001267060.2:c.658C>T	NP_001253989.1:p.Arg220Trp