Canonical Allele Identifier: CA394187954

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412317G>T (hg19) ; chr16:g.1362316G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362316G>T , CM000678.2:g.1362316G>T	GRCh38
NC_000016.9:g.1412317G>T , CM000678.1:g.1412317G>T	GRCh37
NC_000016.8:g.1352318G>T	NCBI36
NG_016985.1:g.15418G>T
NG_033129.1:g.57389C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.621G>T
ENST00000529110.2:c.606G>T	ENSP00000435349.2:p.Leu202Phe
ENST00000529957.6:n.580G>T
ENST00000683366.1:c.*254G>T	ENSP00000507283.1:n.*254G>T
ENST00000683887.1:c.570G>T	ENSP00000506886.1:p.Leu190Phe
ENST00000684100.1:n.516G>T
ENST00000684126.1:n.580G>T
ENST00000684688.1:n.1147G>T
ENST00000204679.9:c.522G>T MANE Select	ENSP00000204679.4:p.Leu174Phe
ENST00000204679.8:c.522G>T	ENSP00000204679.4:p.Leu174Phe
ENST00000527076.1:n.1538G>T
ENST00000527168.5:n.558G>T
ENST00000529957.5:n.621G>T
NM_032520.4:c.522G>T	NP_115909.1:p.Leu174Phe
XM_017023782.1:c.570G>T	XP_016879271.1:p.Leu190Phe
XM_017023783.1:c.162G>T	XP_016879272.1:p.Leu54Phe
NM_032520.5:c.522G>T MANE Select	NP_115909.1:p.Leu174Phe