Canonical Allele Identifier: CA394188714

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412850A>T (hg19) ; chr16:g.1362849A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362849A>T , CM000678.2:g.1362849A>T	GRCh38
NC_000016.9:g.1412850A>T , CM000678.1:g.1412850A>T	GRCh37
NC_000016.8:g.1352851A>T	NCBI36
NG_016985.1:g.15951A>T
NG_033129.1:g.56856T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.865A>T
ENST00000529110.2:c.850A>T	ENSP00000435349.2:p.Ile284Phe
ENST00000529957.6:n.824A>T
ENST00000683366.1:c.*498A>T	ENSP00000507283.1:n.*498A>T
ENST00000683887.1:c.814A>T	ENSP00000506886.1:p.Ile272Phe
ENST00000684100.1:n.760A>T
ENST00000684126.1:n.900A>T
ENST00000684688.1:n.1391A>T
ENST00000204679.9:c.766A>T MANE Select	ENSP00000204679.4:p.Ile256Phe
ENST00000204679.8:c.766A>T	ENSP00000204679.4:p.Ile256Phe
ENST00000527076.1:n.1989A>T
ENST00000527168.5:n.933A>T
ENST00000529957.5:n.865A>T
NM_032520.4:c.766A>T	NP_115909.1:p.Ile256Phe
XM_017023782.1:c.814A>T	XP_016879271.1:p.Ile272Phe
XM_017023783.1:c.406A>T	XP_016879272.1:p.Ile136Phe
NM_032520.5:c.766A>T MANE Select	NP_115909.1:p.Ile256Phe