Canonical Allele Identifier: CA394187331

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412106T>G (hg19) ; chr16:g.1362105T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362105T>G , CM000678.2:g.1362105T>G	GRCh38
NC_000016.9:g.1412106T>G , CM000678.1:g.1412106T>G	GRCh37
NC_000016.8:g.1352107T>G	NCBI36
NG_016985.1:g.15207T>G
NG_033129.1:g.57600A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.484T>G
ENST00000529110.2:c.469T>G	ENSP00000435349.2:p.Cys157Gly
ENST00000529957.6:n.443T>G
ENST00000683366.1:c.*117T>G	ENSP00000507283.1:n.*117T>G
ENST00000683887.1:c.433T>G	ENSP00000506886.1:p.Cys145Gly
ENST00000684100.1:n.379T>G
ENST00000684126.1:n.443T>G
ENST00000684688.1:n.1010T>G
ENST00000204679.9:c.385T>G MANE Select	ENSP00000204679.4:p.Cys129Gly
ENST00000204679.8:c.385T>G	ENSP00000204679.4:p.Cys129Gly
ENST00000526820.5:c.*287T>G	ENSP00000434413.1:n.*287T>G
ENST00000527076.1:n.1401T>G
ENST00000527168.5:n.421T>G
ENST00000529110.1:c.452T>G
ENST00000529957.5:n.484T>G
NM_032520.4:c.385T>G	NP_115909.1:p.Cys129Gly
XM_017023782.1:c.433T>G	XP_016879271.1:p.Cys145Gly
XM_017023783.1:c.25T>G	XP_016879272.1:p.Cys9Gly
NM_032520.5:c.385T>G MANE Select	NP_115909.1:p.Cys129Gly