Canonical Allele Identifier: CA493026721

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362860-G-T
• COSMIC: COSM1323720
• MyVariant Identifiers: chr16:g.1412861G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362860G>T , CM000678.2:g.1362860G>T	GRCh38
NC_000016.9:g.1412861G>T , CM000678.1:g.1412861G>T	GRCh37
NC_000016.8:g.1352862G>T	NCBI36
NG_016985.1:g.15962G>T
NG_033129.1:g.56845C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.876G>T
ENST00000529110.2:c.861G>T	ENSP00000435349.2:p.Leu287=
ENST00000529957.6:n.835G>T
ENST00000683366.1:c.*509G>T	ENSP00000507283.1:n.*509G>T
ENST00000683887.1:c.825G>T	ENSP00000506886.1:p.Leu275=
ENST00000684100.1:n.771G>T
ENST00000684126.1:n.911G>T
ENST00000684688.1:n.1402G>T
ENST00000204679.9:c.777G>T MANE Select	ENSP00000204679.4:p.Leu259=
ENST00000204679.8:c.777G>T	ENSP00000204679.4:p.Leu259=
ENST00000527076.1:n.2000G>T
ENST00000527168.5:n.944G>T
ENST00000529957.5:n.876G>T
NM_032520.4:c.777G>T	NP_115909.1:p.Leu259=
XM_017023782.1:c.825G>T	XP_016879271.1:p.Leu275=
XM_017023783.1:c.417G>T	XP_016879272.1:p.Leu139=
NM_032520.5:c.777G>T MANE Select	NP_115909.1:p.Leu259=