Canonical Allele Identifier: CA7807588

Gene: GNPTG

Linked Data

• dbSNP Id: rs778481117
• ExAC: 16:1411929 G / T
• gnomAD v2: 16-1411929-G-T
• gnomAD v4: 16-1361928-G-T
• MyVariant Identifiers: chr16:g.1411929G>T (hg19) ; chr16:g.1361928G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361928G>T , CM000678.2:g.1361928G>T	GRCh38
NC_000016.9:g.1411929G>T , CM000678.1:g.1411929G>T	GRCh37
NC_000016.8:g.1351930G>T	NCBI36
NG_016985.1:g.15030G>T
NG_033129.1:g.57777C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.389G>T
ENST00000529110.2:c.374G>T	ENSP00000435349.2:p.Arg125Leu
ENST00000529957.6:n.348G>T
ENST00000683366.1:c.*22G>T	ENSP00000507283.1:n.*22G>T
ENST00000683887.1:c.338G>T	ENSP00000506886.1:p.Arg113Leu
ENST00000684100.1:n.284G>T
ENST00000684126.1:n.348G>T
ENST00000684688.1:n.915G>T
ENST00000204679.9:c.290G>T MANE Select	ENSP00000204679.4:p.Arg97Leu
ENST00000204679.8:c.290G>T	ENSP00000204679.4:p.Arg97Leu
ENST00000526820.5:c.*192G>T	ENSP00000434413.1:n.*192G>T
ENST00000527076.1:n.1306G>T
ENST00000527168.5:n.326G>T
ENST00000529110.1:c.357G>T
ENST00000529957.5:n.389G>T
NM_032520.4:c.290G>T	NP_115909.1:p.Arg97Leu
XM_017023782.1:c.338G>T	XP_016879271.1:p.Arg113Leu
XM_017023783.1:c.-71G>T	XP_016879272.1:n.-71G>T
NM_032520.5:c.290G>T MANE Select	NP_115909.1:p.Arg97Leu