Canonical Allele Identifier: CA425606801

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375511-G-A
• MyVariant Identifiers: chr2:g.27598378G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375511G>A , CM000664.2:g.27375511G>A	GRCh38
NC_000002.11:g.27598378G>A , CM000664.1:g.27598378G>A	GRCh37
NC_000002.10:g.27451882G>A	NCBI36
NG_028219.1:g.10234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.780G>A MANE Select	ENSP00000233575.2:p.Leu260=
ENST00000233575.6:c.780G>A	ENSP00000233575.2:p.Leu260=
ENST00000427123.5:c.*590G>A	ENSP00000405399.1:n.*590G>A
ENST00000440760.5:c.*625G>A	ENSP00000399727.1:n.*625G>A
ENST00000453453.1:c.*307G>A	ENSP00000401922.1:n.*307G>A
ENST00000493711.1:n.497G>A
ENST00000494893.5:n.956G>A
ENST00000537606.5:c.705G>A	ENSP00000439208.1:p.Leu235=
NM_001267059.1:c.744G>A	NP_001253988.1:p.Leu248=
NM_001267060.1:c.705G>A	NP_001253989.1:p.Leu235=
NM_001267061.1:c.720G>A	NP_001253990.1:p.Leu240=
NM_014748.3:c.780G>A	NP_055563.1:p.Leu260=
NR_049782.1:n.1153G>A
NR_049783.1:n.1126G>A
NR_049784.1:n.1102G>A
NR_049785.1:n.1035G>A
NR_049786.1:n.984G>A
NR_049787.1:n.835G>A
NR_049788.1:n.765G>A
XM_011533203.1:c.138G>A	XP_011531505.1:p.Leu46=
XM_011533203.2:c.138G>A	XP_011531505.1:p.Leu46=
XM_017005405.2:c.138G>A	XP_016860894.1:p.Leu46=
NM_014748.4:c.780G>A MANE Select	NP_055563.1:p.Leu260=
NM_001267059.2:c.744G>A	NP_001253988.1:p.Leu248=
NM_001267061.2:c.720G>A	NP_001253990.1:p.Leu240=
NR_049782.2:n.1033G>A
NR_049783.2:n.1006G>A
NR_049784.2:n.982G>A
NR_049785.2:n.915G>A
NR_049786.2:n.864G>A
NR_049787.2:n.715G>A
NR_049788.2:n.645G>A
NM_001267060.2:c.705G>A	NP_001253989.1:p.Leu235=