Canonical Allele Identifier: CA346209653

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597931G>C (hg19) ; chr2:g.27375064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375064G>C , CM000664.2:g.27375064G>C	GRCh38
NC_000002.11:g.27597931G>C , CM000664.1:g.27597931G>C	GRCh37
NC_000002.10:g.27451435G>C	NCBI36
NG_009305.1:g.394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.685G>C MANE Select	ENSP00000233575.2:p.Val229Leu
ENST00000233575.6:c.685G>C	ENSP00000233575.2:p.Val229Leu
ENST00000427123.5:c.*495G>C	ENSP00000405399.1:n.*495G>C
ENST00000440760.5:c.*530G>C	ENSP00000399727.1:n.*530G>C
ENST00000453453.1:c.*212G>C	ENSP00000401922.1:n.*212G>C
ENST00000493711.1:n.402G>C
ENST00000494893.5:n.861G>C
ENST00000537606.5:c.610G>C	ENSP00000439208.1:p.Val204Leu
NM_001267059.1:c.649G>C	NP_001253988.1:p.Val217Leu
NM_001267060.1:c.610G>C	NP_001253989.1:p.Val204Leu
NM_001267061.1:c.625G>C	NP_001253990.1:p.Val209Leu
NM_014748.3:c.685G>C	NP_055563.1:p.Val229Leu
NR_049782.1:n.1058G>C
NR_049783.1:n.1031G>C
NR_049784.1:n.1007G>C
NR_049785.1:n.940G>C
NR_049786.1:n.889G>C
NR_049787.1:n.740G>C
NR_049788.1:n.670G>C
XM_011533203.1:c.43G>C	XP_011531505.1:p.Val15Leu
XM_011533203.2:c.43G>C	XP_011531505.1:p.Val15Leu
XM_017005405.2:c.43G>C	XP_016860894.1:p.Val15Leu
NM_014748.4:c.685G>C MANE Select	NP_055563.1:p.Val229Leu
NM_001267059.2:c.649G>C	NP_001253988.1:p.Val217Leu
NM_001267061.2:c.625G>C	NP_001253990.1:p.Val209Leu
NR_049782.2:n.938G>C
NR_049783.2:n.911G>C
NR_049784.2:n.887G>C
NR_049785.2:n.820G>C
NR_049786.2:n.769G>C
NR_049787.2:n.620G>C
NR_049788.2:n.550G>C
NM_001267060.2:c.610G>C	NP_001253989.1:p.Val204Leu