Canonical Allele Identifier: CA493026501

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362238-G-T
• MyVariant Identifiers: chr16:g.1412239G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362238G>T , CM000678.2:g.1362238G>T	GRCh38
NC_000016.9:g.1412239G>T , CM000678.1:g.1412239G>T	GRCh37
NC_000016.8:g.1352240G>T	NCBI36
NG_016985.1:g.15340G>T
NG_033129.1:g.57467C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.543G>T
ENST00000529110.2:c.528G>T	ENSP00000435349.2:p.Leu176=
ENST00000529957.6:n.502G>T
ENST00000683366.1:c.*176G>T	ENSP00000507283.1:n.*176G>T
ENST00000683887.1:c.492G>T	ENSP00000506886.1:p.Leu164=
ENST00000684100.1:n.438G>T
ENST00000684126.1:n.502G>T
ENST00000684688.1:n.1069G>T
ENST00000204679.9:c.444G>T MANE Select	ENSP00000204679.4:p.Leu148=
ENST00000204679.8:c.444G>T	ENSP00000204679.4:p.Leu148=
ENST00000527076.1:n.1460G>T
ENST00000527168.5:n.480G>T
ENST00000529110.1:c.511G>T
ENST00000529957.5:n.543G>T
NM_032520.4:c.444G>T	NP_115909.1:p.Leu148=
XM_017023782.1:c.492G>T	XP_016879271.1:p.Leu164=
XM_017023783.1:c.84G>T	XP_016879272.1:p.Leu28=
NM_032520.5:c.444G>T MANE Select	NP_115909.1:p.Leu148=