Canonical Allele Identifier: CA394187912

Gene: GNPTG

Linked Data

• dbSNP Id: rs764053747
• gnomAD v4: 16-1362293-C-T
• MyVariant Identifiers: chr16:g.1412294C>T (hg19) ; chr16:g.1362293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362293C>T , CM000678.2:g.1362293C>T	GRCh38
NC_000016.9:g.1412294C>T , CM000678.1:g.1412294C>T	GRCh37
NC_000016.8:g.1352295C>T	NCBI36
NG_016985.1:g.15395C>T
NG_033129.1:g.57412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.598C>T
ENST00000529110.2:c.583C>T	ENSP00000435349.2:p.Leu195Phe
ENST00000529957.6:n.557C>T
ENST00000683366.1:c.*231C>T	ENSP00000507283.1:n.*231C>T
ENST00000683887.1:c.547C>T	ENSP00000506886.1:p.Leu183Phe
ENST00000684100.1:n.493C>T
ENST00000684126.1:n.557C>T
ENST00000684688.1:n.1124C>T
ENST00000204679.9:c.499C>T MANE Select	ENSP00000204679.4:p.Leu167Phe
ENST00000204679.8:c.499C>T	ENSP00000204679.4:p.Leu167Phe
ENST00000527076.1:n.1515C>T
ENST00000527168.5:n.535C>T
ENST00000529957.5:n.598C>T
NM_032520.4:c.499C>T	NP_115909.1:p.Leu167Phe
XM_017023782.1:c.547C>T	XP_016879271.1:p.Leu183Phe
XM_017023783.1:c.139C>T	XP_016879272.1:p.Leu47Phe
NM_032520.5:c.499C>T MANE Select	NP_115909.1:p.Leu167Phe