Canonical Allele Identifier: CA394187212

Gene: GNPTG

Linked Data

• dbSNP Id: rs1253842676
• gnomAD v2: 16-1412053-G-T
• gnomAD v4: 16-1362052-G-T
• MyVariant Identifiers: chr16:g.1412053G>T (hg19) ; chr16:g.1362052G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362052G>T , CM000678.2:g.1362052G>T	GRCh38
NC_000016.9:g.1412053G>T , CM000678.1:g.1412053G>T	GRCh37
NC_000016.8:g.1352054G>T	NCBI36
NG_016985.1:g.15154G>T
NG_033129.1:g.57653C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.431G>T
ENST00000529110.2:c.416G>T	ENSP00000435349.2:p.Trp139Leu
ENST00000529957.6:n.390G>T
ENST00000683366.1:c.*64G>T	ENSP00000507283.1:n.*64G>T
ENST00000683887.1:c.380G>T	ENSP00000506886.1:p.Trp127Leu
ENST00000684100.1:n.326G>T
ENST00000684126.1:n.390G>T
ENST00000684688.1:n.957G>T
ENST00000204679.9:c.332G>T MANE Select	ENSP00000204679.4:p.Trp111Leu
ENST00000204679.8:c.332G>T	ENSP00000204679.4:p.Trp111Leu
ENST00000526820.5:c.*234G>T	ENSP00000434413.1:n.*234G>T
ENST00000527076.1:n.1348G>T
ENST00000527168.5:n.368G>T
ENST00000529110.1:c.399G>T
ENST00000529957.5:n.431G>T
NM_032520.4:c.332G>T	NP_115909.1:p.Trp111Leu
XM_017023782.1:c.380G>T	XP_016879271.1:p.Trp127Leu
XM_017023783.1:c.-29G>T	XP_016879272.1:n.-29G>T
NM_032520.5:c.332G>T MANE Select	NP_115909.1:p.Trp111Leu