Canonical Allele Identifier: CA394186827

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411892C>T (hg19) ; chr16:g.1361891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361891C>T , CM000678.2:g.1361891C>T	GRCh38
NC_000016.9:g.1411892C>T , CM000678.1:g.1411892C>T	GRCh37
NC_000016.8:g.1351893C>T	NCBI36
NG_016985.1:g.14993C>T
NG_033129.1:g.57814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.352C>T
ENST00000529110.2:c.337C>T	ENSP00000435349.2:p.Pro113Ser
ENST00000529957.6:n.311C>T
ENST00000683366.1:c.198C>T	ENSP00000507283.1:p.Ala66=
ENST00000683887.1:c.301C>T	ENSP00000506886.1:p.Pro101Ser
ENST00000684100.1:n.247C>T
ENST00000684126.1:n.311C>T
ENST00000684688.1:n.878C>T
ENST00000204679.9:c.253C>T MANE Select	ENSP00000204679.4:p.Pro85Ser
ENST00000204679.8:c.253C>T	ENSP00000204679.4:p.Pro85Ser
ENST00000526820.5:c.*155C>T	ENSP00000434413.1:n.*155C>T
ENST00000527076.1:n.1269C>T
ENST00000527168.5:n.289C>T
ENST00000529110.1:c.320C>T
ENST00000529957.5:n.352C>T
NM_032520.4:c.253C>T	NP_115909.1:p.Pro85Ser
XM_017023782.1:c.301C>T	XP_016879271.1:p.Pro101Ser
XM_017023783.1:c.-108C>T	XP_016879272.1:n.-108C>T
NM_032520.5:c.253C>T MANE Select	NP_115909.1:p.Pro85Ser