Canonical Allele Identifier: CA1577406

Gene: SNX17

Linked Data

• dbSNP Id: rs762028919
• ExAC: 2:27598013 A / T
• gnomAD v2: 2-27598013-A-T
• gnomAD v4: 2-27375146-A-T
• MyVariant Identifiers: chr2:g.27598013A>T (hg19) ; chr2:g.27375146A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375146A>T , CM000664.2:g.27375146A>T	GRCh38
NC_000002.11:g.27598013A>T , CM000664.1:g.27598013A>T	GRCh37
NC_000002.10:g.27451517A>T	NCBI36
NG_009305.1:g.312T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.767A>T MANE Select	ENSP00000233575.2:p.Lys256Met
ENST00000233575.6:c.767A>T	ENSP00000233575.2:p.Lys256Met
ENST00000427123.5:c.*577A>T	ENSP00000405399.1:n.*577A>T
ENST00000440760.5:c.*612A>T	ENSP00000399727.1:n.*612A>T
ENST00000453453.1:c.*294A>T	ENSP00000401922.1:n.*294A>T
ENST00000493711.1:n.484A>T
ENST00000494893.5:n.943A>T
ENST00000537606.5:c.692A>T	ENSP00000439208.1:p.Lys231Met
NM_001267059.1:c.731A>T	NP_001253988.1:p.Lys244Met
NM_001267060.1:c.692A>T	NP_001253989.1:p.Lys231Met
NM_001267061.1:c.707A>T	NP_001253990.1:p.Lys236Met
NM_014748.3:c.767A>T	NP_055563.1:p.Lys256Met
NR_049782.1:n.1140A>T
NR_049783.1:n.1113A>T
NR_049784.1:n.1089A>T
NR_049785.1:n.1022A>T
NR_049786.1:n.971A>T
NR_049787.1:n.822A>T
NR_049788.1:n.752A>T
XM_011533203.1:c.125A>T	XP_011531505.1:p.Lys42Met
XM_011533203.2:c.125A>T	XP_011531505.1:p.Lys42Met
XM_017005405.2:c.125A>T	XP_016860894.1:p.Lys42Met
NM_014748.4:c.767A>T MANE Select	NP_055563.1:p.Lys256Met
NM_001267059.2:c.731A>T	NP_001253988.1:p.Lys244Met
NM_001267061.2:c.707A>T	NP_001253990.1:p.Lys236Met
NR_049782.2:n.1020A>T
NR_049783.2:n.993A>T
NR_049784.2:n.969A>T
NR_049785.2:n.902A>T
NR_049786.2:n.851A>T
NR_049787.2:n.702A>T
NR_049788.2:n.632A>T
NM_001267060.2:c.692A>T	NP_001253989.1:p.Lys231Met