Canonical Allele Identifier: CA346210105

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598413T>A (hg19) ; chr2:g.27375546T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375546T>A , CM000664.2:g.27375546T>A	GRCh38
NC_000002.11:g.27598413T>A , CM000664.1:g.27598413T>A	GRCh37
NC_000002.10:g.27451917T>A	NCBI36
NG_028219.1:g.10199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.815T>A MANE Select	ENSP00000233575.2:p.Leu272Ter
ENST00000233575.6:c.815T>A	ENSP00000233575.2:p.Leu272Ter
ENST00000427123.5:c.*625T>A	ENSP00000405399.1:n.*625T>A
ENST00000440760.5:c.*660T>A	ENSP00000399727.1:n.*660T>A
ENST00000453453.1:c.*342T>A	ENSP00000401922.1:n.*342T>A
ENST00000493711.1:n.532T>A
ENST00000537606.5:c.740T>A	ENSP00000439208.1:p.Leu247Ter
NM_001267059.1:c.779T>A	NP_001253988.1:p.Leu260Ter
NM_001267060.1:c.740T>A	NP_001253989.1:p.Leu247Ter
NM_001267061.1:c.755T>A	NP_001253990.1:p.Leu252Ter
NM_014748.3:c.815T>A	NP_055563.1:p.Leu272Ter
NR_049782.1:n.1188T>A
NR_049783.1:n.1161T>A
NR_049784.1:n.1137T>A
NR_049785.1:n.1070T>A
NR_049786.1:n.1019T>A
NR_049787.1:n.870T>A
NR_049788.1:n.800T>A
XM_011533203.1:c.173T>A	XP_011531505.1:p.Leu58Ter
XM_011533203.2:c.173T>A	XP_011531505.1:p.Leu58Ter
XM_017005405.2:c.173T>A	XP_016860894.1:p.Leu58Ter
NM_014748.4:c.815T>A MANE Select	NP_055563.1:p.Leu272Ter
NM_001267059.2:c.779T>A	NP_001253988.1:p.Leu260Ter
NM_001267061.2:c.755T>A	NP_001253990.1:p.Leu252Ter
NR_049782.2:n.1068T>A
NR_049783.2:n.1041T>A
NR_049784.2:n.1017T>A
NR_049785.2:n.950T>A
NR_049786.2:n.899T>A
NR_049787.2:n.750T>A
NR_049788.2:n.680T>A
NM_001267060.2:c.740T>A	NP_001253989.1:p.Leu247Ter