Canonical Allele Identifier: CA493026667

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412638T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362637T>C , CM000678.2:g.1362637T>C	GRCh38
NC_000016.9:g.1412638T>C , CM000678.1:g.1412638T>C	GRCh37
NC_000016.8:g.1352639T>C	NCBI36
NG_016985.1:g.15739T>C
NG_033129.1:g.57068A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.735T>C
ENST00000529110.2:c.720T>C	ENSP00000435349.2:p.Leu240=
ENST00000529957.6:n.694T>C
ENST00000683366.1:c.*368T>C	ENSP00000507283.1:n.*368T>C
ENST00000683887.1:c.684T>C	ENSP00000506886.1:p.Leu228=
ENST00000684100.1:n.630T>C
ENST00000684126.1:n.770T>C
ENST00000684688.1:n.1261T>C
ENST00000204679.9:c.636T>C MANE Select	ENSP00000204679.4:p.Leu212=
ENST00000204679.8:c.636T>C	ENSP00000204679.4:p.Leu212=
ENST00000527076.1:n.1859T>C
ENST00000527168.5:n.803T>C
ENST00000529957.5:n.735T>C
NM_032520.4:c.636T>C	NP_115909.1:p.Leu212=
XM_017023782.1:c.684T>C	XP_016879271.1:p.Leu228=
XM_017023783.1:c.276T>C	XP_016879272.1:p.Leu92=
NM_032520.5:c.636T>C MANE Select	NP_115909.1:p.Leu212=