Canonical Allele Identifier: CA346210089

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598409T>C (hg19) ; chr2:g.27375542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375542T>C , CM000664.2:g.27375542T>C	GRCh38
NC_000002.11:g.27598409T>C , CM000664.1:g.27598409T>C	GRCh37
NC_000002.10:g.27451913T>C	NCBI36
NG_028219.1:g.10203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.811T>C MANE Select	ENSP00000233575.2:p.Tyr271His
ENST00000233575.6:c.811T>C	ENSP00000233575.2:p.Tyr271His
ENST00000427123.5:c.*621T>C	ENSP00000405399.1:n.*621T>C
ENST00000440760.5:c.*656T>C	ENSP00000399727.1:n.*656T>C
ENST00000453453.1:c.*338T>C	ENSP00000401922.1:n.*338T>C
ENST00000493711.1:n.528T>C
ENST00000537606.5:c.736T>C	ENSP00000439208.1:p.Tyr246His
NM_001267059.1:c.775T>C	NP_001253988.1:p.Tyr259His
NM_001267060.1:c.736T>C	NP_001253989.1:p.Tyr246His
NM_001267061.1:c.751T>C	NP_001253990.1:p.Tyr251His
NM_014748.3:c.811T>C	NP_055563.1:p.Tyr271His
NR_049782.1:n.1184T>C
NR_049783.1:n.1157T>C
NR_049784.1:n.1133T>C
NR_049785.1:n.1066T>C
NR_049786.1:n.1015T>C
NR_049787.1:n.866T>C
NR_049788.1:n.796T>C
XM_011533203.1:c.169T>C	XP_011531505.1:p.Tyr57His
XM_011533203.2:c.169T>C	XP_011531505.1:p.Tyr57His
XM_017005405.2:c.169T>C	XP_016860894.1:p.Tyr57His
NM_014748.4:c.811T>C MANE Select	NP_055563.1:p.Tyr271His
NM_001267059.2:c.775T>C	NP_001253988.1:p.Tyr259His
NM_001267061.2:c.751T>C	NP_001253990.1:p.Tyr251His
NR_049782.2:n.1064T>C
NR_049783.2:n.1037T>C
NR_049784.2:n.1013T>C
NR_049785.2:n.946T>C
NR_049786.2:n.895T>C
NR_049787.2:n.746T>C
NR_049788.2:n.676T>C
NM_001267060.2:c.736T>C	NP_001253989.1:p.Tyr246His