Canonical Allele Identifier: CA276657475

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1131283
• ClinVar RCV Id: RCV001465117
• dbSNP Id: rs1000273462
• MyVariant Identifiers: chr16:g.1412263C>T (hg19) ; chr16:g.1362262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362262C>T , CM000678.2:g.1362262C>T	GRCh38
NC_000016.9:g.1412263C>T , CM000678.1:g.1412263C>T	GRCh37
NC_000016.8:g.1352264C>T	NCBI36
NG_016985.1:g.15364C>T
NG_033129.1:g.57443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.567C>T
ENST00000529110.2:c.552C>T	ENSP00000435349.2:p.Thr184=
ENST00000529957.6:n.526C>T
ENST00000683366.1:c.*200C>T	ENSP00000507283.1:n.*200C>T
ENST00000683887.1:c.516C>T	ENSP00000506886.1:p.Thr172=
ENST00000684100.1:n.462C>T
ENST00000684126.1:n.526C>T
ENST00000684688.1:n.1093C>T
ENST00000204679.9:c.468C>T MANE Select	ENSP00000204679.4:p.Thr156=
ENST00000204679.8:c.468C>T	ENSP00000204679.4:p.Thr156=
ENST00000527076.1:n.1484C>T
ENST00000527168.5:n.504C>T
ENST00000529110.1:c.535C>T
ENST00000529957.5:n.567C>T
NM_032520.4:c.468C>T	NP_115909.1:p.Thr156=
XM_017023782.1:c.516C>T	XP_016879271.1:p.Thr172=
XM_017023783.1:c.108C>T	XP_016879272.1:p.Thr36=
NM_032520.5:c.468C>T MANE Select	NP_115909.1:p.Thr156=