Canonical Allele Identifier: CA394187957

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412319T>A (hg19) ; chr16:g.1362318T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362318T>A , CM000678.2:g.1362318T>A	GRCh38
NC_000016.9:g.1412319T>A , CM000678.1:g.1412319T>A	GRCh37
NC_000016.8:g.1352320T>A	NCBI36
NG_016985.1:g.15420T>A
NG_033129.1:g.57387A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.623T>A
ENST00000529110.2:c.608T>A	ENSP00000435349.2:p.Leu203Gln
ENST00000529957.6:n.582T>A
ENST00000683366.1:c.*256T>A	ENSP00000507283.1:n.*256T>A
ENST00000683887.1:c.572T>A	ENSP00000506886.1:p.Leu191Gln
ENST00000684100.1:n.518T>A
ENST00000684126.1:n.582T>A
ENST00000684688.1:n.1149T>A
ENST00000204679.9:c.524T>A MANE Select	ENSP00000204679.4:p.Leu175Gln
ENST00000204679.8:c.524T>A	ENSP00000204679.4:p.Leu175Gln
ENST00000527076.1:n.1540T>A
ENST00000527168.5:n.560T>A
ENST00000529957.5:n.623T>A
NM_032520.4:c.524T>A	NP_115909.1:p.Leu175Gln
XM_017023782.1:c.572T>A	XP_016879271.1:p.Leu191Gln
XM_017023783.1:c.164T>A	XP_016879272.1:p.Leu55Gln
NM_032520.5:c.524T>A MANE Select	NP_115909.1:p.Leu175Gln