Canonical Allele Identifier: CA346210125

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375551-T-C
• MyVariant Identifiers: chr2:g.27598418T>C (hg19) ; chr2:g.27375551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375551T>C , CM000664.2:g.27375551T>C	GRCh38
NC_000002.11:g.27598418T>C , CM000664.1:g.27598418T>C	GRCh37
NC_000002.10:g.27451922T>C	NCBI36
NG_028219.1:g.10194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.820T>C MANE Select	ENSP00000233575.2:p.Phe274Leu
ENST00000233575.6:c.820T>C	ENSP00000233575.2:p.Phe274Leu
ENST00000427123.5:c.*630T>C	ENSP00000405399.1:n.*630T>C
ENST00000440760.5:c.*665T>C	ENSP00000399727.1:n.*665T>C
ENST00000453453.1:c.*347T>C	ENSP00000401922.1:n.*347T>C
ENST00000493711.1:n.537T>C
ENST00000537606.5:c.745T>C	ENSP00000439208.1:p.Phe249Leu
NM_001267059.1:c.784T>C	NP_001253988.1:p.Phe262Leu
NM_001267060.1:c.745T>C	NP_001253989.1:p.Phe249Leu
NM_001267061.1:c.760T>C	NP_001253990.1:p.Phe254Leu
NM_014748.3:c.820T>C	NP_055563.1:p.Phe274Leu
NR_049782.1:n.1193T>C
NR_049783.1:n.1166T>C
NR_049784.1:n.1142T>C
NR_049785.1:n.1075T>C
NR_049786.1:n.1024T>C
NR_049787.1:n.875T>C
NR_049788.1:n.805T>C
XM_011533203.1:c.178T>C	XP_011531505.1:p.Phe60Leu
XM_011533203.2:c.178T>C	XP_011531505.1:p.Phe60Leu
XM_017005405.2:c.178T>C	XP_016860894.1:p.Phe60Leu
NM_014748.4:c.820T>C MANE Select	NP_055563.1:p.Phe274Leu
NM_001267059.2:c.784T>C	NP_001253988.1:p.Phe262Leu
NM_001267061.2:c.760T>C	NP_001253990.1:p.Phe254Leu
NR_049782.2:n.1073T>C
NR_049783.2:n.1046T>C
NR_049784.2:n.1022T>C
NR_049785.2:n.955T>C
NR_049786.2:n.904T>C
NR_049787.2:n.755T>C
NR_049788.2:n.685T>C
NM_001267060.2:c.745T>C	NP_001253989.1:p.Phe249Leu