Canonical Allele Identifier: CA425415813

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597996G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375129G>T , CM000664.2:g.27375129G>T	GRCh38
NC_000002.11:g.27597996G>T , CM000664.1:g.27597996G>T	GRCh37
NC_000002.10:g.27451500G>T	NCBI36
NG_009305.1:g.329C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.750G>T MANE Select	ENSP00000233575.2:p.Leu250=
ENST00000233575.6:c.750G>T	ENSP00000233575.2:p.Leu250=
ENST00000427123.5:c.*560G>T	ENSP00000405399.1:n.*560G>T
ENST00000440760.5:c.*595G>T	ENSP00000399727.1:n.*595G>T
ENST00000453453.1:c.*277G>T	ENSP00000401922.1:n.*277G>T
ENST00000493711.1:n.467G>T
ENST00000494893.5:n.926G>T
ENST00000537606.5:c.675G>T	ENSP00000439208.1:p.Leu225=
NM_001267059.1:c.714G>T	NP_001253988.1:p.Leu238=
NM_001267060.1:c.675G>T	NP_001253989.1:p.Leu225=
NM_001267061.1:c.690G>T	NP_001253990.1:p.Leu230=
NM_014748.3:c.750G>T	NP_055563.1:p.Leu250=
NR_049782.1:n.1123G>T
NR_049783.1:n.1096G>T
NR_049784.1:n.1072G>T
NR_049785.1:n.1005G>T
NR_049786.1:n.954G>T
NR_049787.1:n.805G>T
NR_049788.1:n.735G>T
XM_011533203.1:c.108G>T	XP_011531505.1:p.Leu36=
XM_011533203.2:c.108G>T	XP_011531505.1:p.Leu36=
XM_017005405.2:c.108G>T	XP_016860894.1:p.Leu36=
NM_014748.4:c.750G>T MANE Select	NP_055563.1:p.Leu250=
NM_001267059.2:c.714G>T	NP_001253988.1:p.Leu238=
NM_001267061.2:c.690G>T	NP_001253990.1:p.Leu230=
NR_049782.2:n.1003G>T
NR_049783.2:n.976G>T
NR_049784.2:n.952G>T
NR_049785.2:n.885G>T
NR_049786.2:n.834G>T
NR_049787.2:n.685G>T
NR_049788.2:n.615G>T
NM_001267060.2:c.675G>T	NP_001253989.1:p.Leu225=