Canonical Allele Identifier: CA394187343

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412112T>G (hg19) ; chr16:g.1362111T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362111T>G , CM000678.2:g.1362111T>G	GRCh38
NC_000016.9:g.1412112T>G , CM000678.1:g.1412112T>G	GRCh37
NC_000016.8:g.1352113T>G	NCBI36
NG_016985.1:g.15213T>G
NG_033129.1:g.57594A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.490T>G
ENST00000529110.2:c.475T>G	ENSP00000435349.2:p.Ser159Ala
ENST00000529957.6:n.449T>G
ENST00000683366.1:c.*123T>G	ENSP00000507283.1:n.*123T>G
ENST00000683887.1:c.439T>G	ENSP00000506886.1:p.Ser147Ala
ENST00000684100.1:n.385T>G
ENST00000684126.1:n.449T>G
ENST00000684688.1:n.1016T>G
ENST00000204679.9:c.391T>G MANE Select	ENSP00000204679.4:p.Ser131Ala
ENST00000204679.8:c.391T>G	ENSP00000204679.4:p.Ser131Ala
ENST00000526820.5:c.*293T>G	ENSP00000434413.1:n.*293T>G
ENST00000527076.1:n.1407T>G
ENST00000527168.5:n.427T>G
ENST00000529110.1:c.458T>G
ENST00000529957.5:n.490T>G
NM_032520.4:c.391T>G	NP_115909.1:p.Ser131Ala
XM_017023782.1:c.439T>G	XP_016879271.1:p.Ser147Ala
XM_017023783.1:c.31T>G	XP_016879272.1:p.Ser11Ala
NM_032520.5:c.391T>G MANE Select	NP_115909.1:p.Ser131Ala