Canonical Allele Identifier: CA394187910

Gene: GNPTG

Linked Data

• gnomAD v2: 16-1412292-C-T
• gnomAD v4: 16-1362291-C-T
• MyVariant Identifiers: chr16:g.1412292C>T (hg19) ; chr16:g.1412292_1412295delinsTCCT (hg19) ; chr16:g.1362291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362291C>T , CM000678.2:g.1362291C>T	GRCh38
NC_000016.9:g.1412292C>T , CM000678.1:g.1412292C>T	GRCh37
NC_000016.8:g.1352293C>T	NCBI36
NG_016985.1:g.15393C>T
NG_033129.1:g.57414G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.596C>T
ENST00000529110.2:c.581C>T	ENSP00000435349.2:p.Pro194Leu
ENST00000529957.6:n.555C>T
ENST00000683366.1:c.*229C>T	ENSP00000507283.1:n.*229C>T
ENST00000683887.1:c.545C>T	ENSP00000506886.1:p.Pro182Leu
ENST00000684100.1:n.491C>T
ENST00000684126.1:n.555C>T
ENST00000684688.1:n.1122C>T
ENST00000204679.9:c.497C>T MANE Select	ENSP00000204679.4:p.Pro166Leu
ENST00000204679.8:c.497C>T	ENSP00000204679.4:p.Pro166Leu
ENST00000527076.1:n.1513C>T
ENST00000527168.5:n.533C>T
ENST00000529957.5:n.596C>T
NM_032520.4:c.497C>T	NP_115909.1:p.Pro166Leu
XM_017023782.1:c.545C>T	XP_016879271.1:p.Pro182Leu
XM_017023783.1:c.137C>T	XP_016879272.1:p.Pro46Leu
NM_032520.5:c.497C>T MANE Select	NP_115909.1:p.Pro166Leu