Canonical Allele Identifier: CA394187709

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362234-G-T
• MyVariant Identifiers: chr16:g.1412235G>T (hg19) ; chr16:g.1362234G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362234G>T , CM000678.2:g.1362234G>T	GRCh38
NC_000016.9:g.1412235G>T , CM000678.1:g.1412235G>T	GRCh37
NC_000016.8:g.1352236G>T	NCBI36
NG_016985.1:g.15336G>T
NG_033129.1:g.57471C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.539G>T
ENST00000529110.2:c.524G>T	ENSP00000435349.2:p.Arg175Leu
ENST00000529957.6:n.498G>T
ENST00000683366.1:c.*172G>T	ENSP00000507283.1:n.*172G>T
ENST00000683887.1:c.488G>T	ENSP00000506886.1:p.Arg163Leu
ENST00000684100.1:n.434G>T
ENST00000684126.1:n.498G>T
ENST00000684688.1:n.1065G>T
ENST00000204679.9:c.440G>T MANE Select	ENSP00000204679.4:p.Arg147Leu
ENST00000204679.8:c.440G>T	ENSP00000204679.4:p.Arg147Leu
ENST00000527076.1:n.1456G>T
ENST00000527168.5:n.476G>T
ENST00000529110.1:c.507G>T
ENST00000529957.5:n.539G>T
NM_032520.4:c.440G>T	NP_115909.1:p.Arg147Leu
XM_017023782.1:c.488G>T	XP_016879271.1:p.Arg163Leu
XM_017023783.1:c.80G>T	XP_016879272.1:p.Arg27Leu
NM_032520.5:c.440G>T MANE Select	NP_115909.1:p.Arg147Leu