Canonical Allele Identifier: CA276657460

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2147743
• ClinVar RCV Id: RCV003061052 ; RCV004070445
• dbSNP Id: rs763065729
• gnomAD v2: 16-1412252-G-A
• gnomAD v4: 16-1362251-G-A
• MyVariant Identifiers: chr16:g.1412252G>A (hg19) ; chr16:g.1362251G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362251G>A , CM000678.2:g.1362251G>A	GRCh38
NC_000016.9:g.1412252G>A , CM000678.1:g.1412252G>A	GRCh37
NC_000016.8:g.1352253G>A	NCBI36
NG_016985.1:g.15353G>A
NG_033129.1:g.57454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.556G>A
ENST00000529110.2:c.541G>A	ENSP00000435349.2:p.Glu181Lys
ENST00000529957.6:n.515G>A
ENST00000683366.1:c.*189G>A	ENSP00000507283.1:n.*189G>A
ENST00000683887.1:c.505G>A	ENSP00000506886.1:p.Glu169Lys
ENST00000684100.1:n.451G>A
ENST00000684126.1:n.515G>A
ENST00000684688.1:n.1082G>A
ENST00000204679.9:c.457G>A MANE Select	ENSP00000204679.4:p.Glu153Lys
ENST00000204679.8:c.457G>A	ENSP00000204679.4:p.Glu153Lys
ENST00000527076.1:n.1473G>A
ENST00000527168.5:n.493G>A
ENST00000529110.1:c.524G>A
ENST00000529957.5:n.556G>A
NM_032520.4:c.457G>A	NP_115909.1:p.Glu153Lys
XM_017023782.1:c.505G>A	XP_016879271.1:p.Glu169Lys
XM_017023783.1:c.97G>A	XP_016879272.1:p.Glu33Lys
NM_032520.5:c.457G>A MANE Select	NP_115909.1:p.Glu153Lys