Canonical Allele Identifier: CA276658309

Gene: GNPTG

Linked Data

• dbSNP Id: rs927888758
• MyVariant Identifiers: chr16:g.1412517T>C (hg19) ; chr16:g.1362516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362516T>C , CM000678.2:g.1362516T>C	GRCh38
NC_000016.9:g.1412517T>C , CM000678.1:g.1412517T>C	GRCh37
NC_000016.8:g.1352518T>C	NCBI36
NG_016985.1:g.15618T>C
NG_033129.1:g.57189A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.690T>C
ENST00000529110.2:c.675T>C	ENSP00000435349.2:p.Asp225=
ENST00000529957.6:n.649T>C
ENST00000683366.1:c.*323T>C	ENSP00000507283.1:n.*323T>C
ENST00000683887.1:c.639T>C	ENSP00000506886.1:p.Asp213=
ENST00000684100.1:n.585T>C
ENST00000684126.1:n.649T>C
ENST00000684688.1:n.1216T>C
ENST00000204679.9:c.591T>C MANE Select	ENSP00000204679.4:p.Asp197=
ENST00000204679.8:c.591T>C	ENSP00000204679.4:p.Asp197=
ENST00000527076.1:n.1738T>C
ENST00000527168.5:n.758T>C
ENST00000529957.5:n.690T>C
NM_032520.4:c.591T>C	NP_115909.1:p.Asp197=
XM_017023782.1:c.639T>C	XP_016879271.1:p.Asp213=
XM_017023783.1:c.231T>C	XP_016879272.1:p.Asp77=
NM_032520.5:c.591T>C MANE Select	NP_115909.1:p.Asp197=