Canonical Allele Identifier: CA346209716

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597961G>C (hg19) ; chr2:g.27375094G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375094G>C , CM000664.2:g.27375094G>C	GRCh38
NC_000002.11:g.27597961G>C , CM000664.1:g.27597961G>C	GRCh37
NC_000002.10:g.27451465G>C	NCBI36
NG_009305.1:g.364C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.715G>C MANE Select	ENSP00000233575.2:p.Val239Leu
ENST00000233575.6:c.715G>C	ENSP00000233575.2:p.Val239Leu
ENST00000427123.5:c.*525G>C	ENSP00000405399.1:n.*525G>C
ENST00000440760.5:c.*560G>C	ENSP00000399727.1:n.*560G>C
ENST00000453453.1:c.*242G>C	ENSP00000401922.1:n.*242G>C
ENST00000493711.1:n.432G>C
ENST00000494893.5:n.891G>C
ENST00000537606.5:c.640G>C	ENSP00000439208.1:p.Val214Leu
NM_001267059.1:c.679G>C	NP_001253988.1:p.Val227Leu
NM_001267060.1:c.640G>C	NP_001253989.1:p.Val214Leu
NM_001267061.1:c.655G>C	NP_001253990.1:p.Val219Leu
NM_014748.3:c.715G>C	NP_055563.1:p.Val239Leu
NR_049782.1:n.1088G>C
NR_049783.1:n.1061G>C
NR_049784.1:n.1037G>C
NR_049785.1:n.970G>C
NR_049786.1:n.919G>C
NR_049787.1:n.770G>C
NR_049788.1:n.700G>C
XM_011533203.1:c.73G>C	XP_011531505.1:p.Val25Leu
XM_011533203.2:c.73G>C	XP_011531505.1:p.Val25Leu
XM_017005405.2:c.73G>C	XP_016860894.1:p.Val25Leu
NM_014748.4:c.715G>C MANE Select	NP_055563.1:p.Val239Leu
NM_001267059.2:c.679G>C	NP_001253988.1:p.Val227Leu
NM_001267061.2:c.655G>C	NP_001253990.1:p.Val219Leu
NR_049782.2:n.968G>C
NR_049783.2:n.941G>C
NR_049784.2:n.917G>C
NR_049785.2:n.850G>C
NR_049786.2:n.799G>C
NR_049787.2:n.650G>C
NR_049788.2:n.580G>C
NM_001267060.2:c.640G>C	NP_001253989.1:p.Val214Leu