Canonical Allele Identifier: CA493026634

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362531-C-T
• MyVariant Identifiers: chr16:g.1412532C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362531C>T , CM000678.2:g.1362531C>T	GRCh38
NC_000016.9:g.1412532C>T , CM000678.1:g.1412532C>T	GRCh37
NC_000016.8:g.1352533C>T	NCBI36
NG_016985.1:g.15633C>T
NG_033129.1:g.57174G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.705C>T
ENST00000529110.2:c.690C>T	ENSP00000435349.2:p.Pro230=
ENST00000529957.6:n.664C>T
ENST00000683366.1:c.*338C>T	ENSP00000507283.1:n.*338C>T
ENST00000683887.1:c.654C>T	ENSP00000506886.1:p.Pro218=
ENST00000684100.1:n.600C>T
ENST00000684126.1:n.664C>T
ENST00000684688.1:n.1231C>T
ENST00000204679.9:c.606C>T MANE Select	ENSP00000204679.4:p.Pro202=
ENST00000204679.8:c.606C>T	ENSP00000204679.4:p.Pro202=
ENST00000527076.1:n.1753C>T
ENST00000527168.5:n.773C>T
ENST00000529957.5:n.705C>T
NM_032520.4:c.606C>T	NP_115909.1:p.Pro202=
XM_017023782.1:c.654C>T	XP_016879271.1:p.Pro218=
XM_017023783.1:c.246C>T	XP_016879272.1:p.Pro82=
NM_032520.5:c.606C>T MANE Select	NP_115909.1:p.Pro202=