Canonical Allele Identifier: CA394188406

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412625T>A (hg19) ; chr16:g.1362624T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362624T>A , CM000678.2:g.1362624T>A	GRCh38
NC_000016.9:g.1412625T>A , CM000678.1:g.1412625T>A	GRCh37
NC_000016.8:g.1352626T>A	NCBI36
NG_016985.1:g.15726T>A
NG_033129.1:g.57081A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.722T>A
ENST00000529110.2:c.707T>A	ENSP00000435349.2:p.Leu236Ter
ENST00000529957.6:n.681T>A
ENST00000683366.1:c.*355T>A	ENSP00000507283.1:n.*355T>A
ENST00000683887.1:c.671T>A	ENSP00000506886.1:p.Leu224Ter
ENST00000684100.1:n.617T>A
ENST00000684126.1:n.757T>A
ENST00000684688.1:n.1248T>A
ENST00000204679.9:c.623T>A MANE Select	ENSP00000204679.4:p.Leu208Ter
ENST00000204679.8:c.623T>A	ENSP00000204679.4:p.Leu208Ter
ENST00000527076.1:n.1846T>A
ENST00000527168.5:n.790T>A
ENST00000529957.5:n.722T>A
NM_032520.4:c.623T>A	NP_115909.1:p.Leu208Ter
XM_017023782.1:c.671T>A	XP_016879271.1:p.Leu224Ter
XM_017023783.1:c.263T>A	XP_016879272.1:p.Leu88Ter
NM_032520.5:c.623T>A MANE Select	NP_115909.1:p.Leu208Ter