Canonical Allele Identifier: CA394188629

Gene: GNPTG

Linked Data

• dbSNP Id: rs1467708776
• gnomAD v2: 16-1412734-C-A
• gnomAD v4: 16-1362733-C-A
• MyVariant Identifiers: chr16:g.1412734C>A (hg19) ; chr16:g.1362733C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362733C>A , CM000678.2:g.1362733C>A	GRCh38
NC_000016.9:g.1412734C>A , CM000678.1:g.1412734C>A	GRCh37
NC_000016.8:g.1352735C>A	NCBI36
NG_016985.1:g.15835C>A
NG_033129.1:g.56972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.831C>A
ENST00000529110.2:c.816C>A	ENSP00000435349.2:p.Asn272Lys
ENST00000529957.6:n.790C>A
ENST00000683366.1:c.*464C>A	ENSP00000507283.1:n.*464C>A
ENST00000683887.1:c.780C>A	ENSP00000506886.1:p.Asn260Lys
ENST00000684100.1:n.726C>A
ENST00000684126.1:n.866C>A
ENST00000684688.1:n.1357C>A
ENST00000204679.9:c.732C>A MANE Select	ENSP00000204679.4:p.Asn244Lys
ENST00000204679.8:c.732C>A	ENSP00000204679.4:p.Asn244Lys
ENST00000527076.1:n.1955C>A
ENST00000527168.5:n.899C>A
ENST00000529957.5:n.831C>A
NM_032520.4:c.732C>A	NP_115909.1:p.Asn244Lys
XM_017023782.1:c.780C>A	XP_016879271.1:p.Asn260Lys
XM_017023783.1:c.372C>A	XP_016879272.1:p.Asn124Lys
NM_032520.5:c.732C>A MANE Select	NP_115909.1:p.Asn244Lys