Canonical Allele Identifier: CA394187902

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412287G>C (hg19) ; chr16:g.1362286G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362286G>C , CM000678.2:g.1362286G>C	GRCh38
NC_000016.9:g.1412287G>C , CM000678.1:g.1412287G>C	GRCh37
NC_000016.8:g.1352288G>C	NCBI36
NG_016985.1:g.15388G>C
NG_033129.1:g.57419C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.591G>C
ENST00000529110.2:c.576G>C	ENSP00000435349.2:p.Glu192Asp
ENST00000529957.6:n.550G>C
ENST00000683366.1:c.*224G>C	ENSP00000507283.1:n.*224G>C
ENST00000683887.1:c.540G>C	ENSP00000506886.1:p.Glu180Asp
ENST00000684100.1:n.486G>C
ENST00000684126.1:n.550G>C
ENST00000684688.1:n.1117G>C
ENST00000204679.9:c.492G>C MANE Select	ENSP00000204679.4:p.Glu164Asp
ENST00000204679.8:c.492G>C	ENSP00000204679.4:p.Glu164Asp
ENST00000527076.1:n.1508G>C
ENST00000527168.5:n.528G>C
ENST00000529957.5:n.591G>C
NM_032520.4:c.492G>C	NP_115909.1:p.Glu164Asp
XM_017023782.1:c.540G>C	XP_016879271.1:p.Glu180Asp
XM_017023783.1:c.132G>C	XP_016879272.1:p.Glu44Asp
NM_032520.5:c.492G>C MANE Select	NP_115909.1:p.Glu164Asp