Canonical Allele Identifier: CA394188754

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412870G>T (hg19) ; chr16:g.1362869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362869G>T , CM000678.2:g.1362869G>T	GRCh38
NC_000016.9:g.1412870G>T , CM000678.1:g.1412870G>T	GRCh37
NC_000016.8:g.1352871G>T	NCBI36
NG_016985.1:g.15971G>T
NG_033129.1:g.56836C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.885G>T
ENST00000529110.2:c.870G>T	ENSP00000435349.2:p.Leu290Phe
ENST00000529957.6:n.844G>T
ENST00000683366.1:c.*518G>T	ENSP00000507283.1:n.*518G>T
ENST00000683887.1:c.834G>T	ENSP00000506886.1:p.Leu278Phe
ENST00000684100.1:n.780G>T
ENST00000684126.1:n.920G>T
ENST00000684688.1:n.1411G>T
ENST00000204679.9:c.786G>T MANE Select	ENSP00000204679.4:p.Leu262Phe
ENST00000204679.8:c.786G>T	ENSP00000204679.4:p.Leu262Phe
ENST00000527076.1:n.2009G>T
ENST00000527168.5:n.953G>T
ENST00000529957.5:n.885G>T
NM_032520.4:c.786G>T	NP_115909.1:p.Leu262Phe
XM_017023782.1:c.834G>T	XP_016879271.1:p.Leu278Phe
XM_017023783.1:c.426G>T	XP_016879272.1:p.Leu142Phe
NM_032520.5:c.786G>T MANE Select	NP_115909.1:p.Leu262Phe