Canonical Allele Identifier: CA394186739

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1726675
• ClinVar RCV Id: RCV002310359
• MyVariant Identifiers: chr16:g.1411876C>A (hg19) ; chr16:g.1361875C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361875C>A , CM000678.2:g.1361875C>A	GRCh38
NC_000016.9:g.1411876C>A , CM000678.1:g.1411876C>A	GRCh37
NC_000016.8:g.1351877C>A	NCBI36
NG_016985.1:g.14977C>A
NG_033129.1:g.57830G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.336C>A
ENST00000529110.2:c.321C>A	ENSP00000435349.2:p.Tyr107Ter
ENST00000529957.6:n.295C>A
ENST00000683366.1:c.182C>A	ENSP00000507283.1:p.Thr61Lys
ENST00000683887.1:c.285C>A	ENSP00000506886.1:p.Tyr95Ter
ENST00000684100.1:n.231C>A
ENST00000684126.1:n.295C>A
ENST00000684688.1:n.862C>A
ENST00000204679.9:c.237C>A MANE Select	ENSP00000204679.4:p.Tyr79Ter
ENST00000204679.8:c.237C>A	ENSP00000204679.4:p.Tyr79Ter
ENST00000526820.5:c.*139C>A	ENSP00000434413.1:n.*139C>A
ENST00000527076.1:n.1253C>A
ENST00000527168.5:n.273C>A
ENST00000529110.1:c.304C>A
ENST00000529957.5:n.336C>A
NM_032520.4:c.237C>A	NP_115909.1:p.Tyr79Ter
XM_017023782.1:c.285C>A	XP_016879271.1:p.Tyr95Ter
XM_017023783.1:c.-124C>A	XP_016879272.1:n.-124C>A
NM_032520.5:c.237C>A MANE Select	NP_115909.1:p.Tyr79Ter