Canonical Allele Identifier: CA394187765

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412250C>A (hg19) ; chr16:g.1362249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362249C>A , CM000678.2:g.1362249C>A	GRCh38
NC_000016.9:g.1412250C>A , CM000678.1:g.1412250C>A	GRCh37
NC_000016.8:g.1352251C>A	NCBI36
NG_016985.1:g.15351C>A
NG_033129.1:g.57456G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.554C>A
ENST00000529110.2:c.539C>A	ENSP00000435349.2:p.Ser180Tyr
ENST00000529957.6:n.513C>A
ENST00000683366.1:c.*187C>A	ENSP00000507283.1:n.*187C>A
ENST00000683887.1:c.503C>A	ENSP00000506886.1:p.Ser168Tyr
ENST00000684100.1:n.449C>A
ENST00000684126.1:n.513C>A
ENST00000684688.1:n.1080C>A
ENST00000204679.9:c.455C>A MANE Select	ENSP00000204679.4:p.Ser152Tyr
ENST00000204679.8:c.455C>A	ENSP00000204679.4:p.Ser152Tyr
ENST00000527076.1:n.1471C>A
ENST00000527168.5:n.491C>A
ENST00000529110.1:c.522C>A
ENST00000529957.5:n.554C>A
NM_032520.4:c.455C>A	NP_115909.1:p.Ser152Tyr
XM_017023782.1:c.503C>A	XP_016879271.1:p.Ser168Tyr
XM_017023783.1:c.95C>A	XP_016879272.1:p.Ser32Tyr
NM_032520.5:c.455C>A MANE Select	NP_115909.1:p.Ser152Tyr