Canonical Allele Identifier: CA346209755

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597977A>T (hg19) ; chr2:g.27375110A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375110A>T , CM000664.2:g.27375110A>T	GRCh38
NC_000002.11:g.27597977A>T , CM000664.1:g.27597977A>T	GRCh37
NC_000002.10:g.27451481A>T	NCBI36
NG_009305.1:g.348T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.731A>T MANE Select	ENSP00000233575.2:p.His244Leu
ENST00000233575.6:c.731A>T	ENSP00000233575.2:p.His244Leu
ENST00000427123.5:c.*541A>T	ENSP00000405399.1:n.*541A>T
ENST00000440760.5:c.*576A>T	ENSP00000399727.1:n.*576A>T
ENST00000453453.1:c.*258A>T	ENSP00000401922.1:n.*258A>T
ENST00000493711.1:n.448A>T
ENST00000494893.5:n.907A>T
ENST00000537606.5:c.656A>T	ENSP00000439208.1:p.His219Leu
NM_001267059.1:c.695A>T	NP_001253988.1:p.His232Leu
NM_001267060.1:c.656A>T	NP_001253989.1:p.His219Leu
NM_001267061.1:c.671A>T	NP_001253990.1:p.His224Leu
NM_014748.3:c.731A>T	NP_055563.1:p.His244Leu
NR_049782.1:n.1104A>T
NR_049783.1:n.1077A>T
NR_049784.1:n.1053A>T
NR_049785.1:n.986A>T
NR_049786.1:n.935A>T
NR_049787.1:n.786A>T
NR_049788.1:n.716A>T
XM_011533203.1:c.89A>T	XP_011531505.1:p.His30Leu
XM_011533203.2:c.89A>T	XP_011531505.1:p.His30Leu
XM_017005405.2:c.89A>T	XP_016860894.1:p.His30Leu
NM_014748.4:c.731A>T MANE Select	NP_055563.1:p.His244Leu
NM_001267059.2:c.695A>T	NP_001253988.1:p.His232Leu
NM_001267061.2:c.671A>T	NP_001253990.1:p.His224Leu
NR_049782.2:n.984A>T
NR_049783.2:n.957A>T
NR_049784.2:n.933A>T
NR_049785.2:n.866A>T
NR_049786.2:n.815A>T
NR_049787.2:n.666A>T
NR_049788.2:n.596A>T
NM_001267060.2:c.656A>T	NP_001253989.1:p.His219Leu