Canonical Allele Identifier: CA394186793

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411886T>A (hg19) ; chr16:g.1361885T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361885T>A , CM000678.2:g.1361885T>A	GRCh38
NC_000016.9:g.1411886T>A , CM000678.1:g.1411886T>A	GRCh37
NC_000016.8:g.1351887T>A	NCBI36
NG_016985.1:g.14987T>A
NG_033129.1:g.57820A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.346T>A
ENST00000529110.2:c.331T>A	ENSP00000435349.2:p.Phe111Ile
ENST00000529957.6:n.305T>A
ENST00000683366.1:c.192T>A	ENSP00000507283.1:p.Ser64Arg
ENST00000683887.1:c.295T>A	ENSP00000506886.1:p.Phe99Ile
ENST00000684100.1:n.241T>A
ENST00000684126.1:n.305T>A
ENST00000684688.1:n.872T>A
ENST00000204679.9:c.247T>A MANE Select	ENSP00000204679.4:p.Phe83Ile
ENST00000204679.8:c.247T>A	ENSP00000204679.4:p.Phe83Ile
ENST00000526820.5:c.*149T>A	ENSP00000434413.1:n.*149T>A
ENST00000527076.1:n.1263T>A
ENST00000527168.5:n.283T>A
ENST00000529110.1:c.314T>A
ENST00000529957.5:n.346T>A
NM_032520.4:c.247T>A	NP_115909.1:p.Phe83Ile
XM_017023782.1:c.295T>A	XP_016879271.1:p.Phe99Ile
XM_017023783.1:c.-114T>A	XP_016879272.1:n.-114T>A
NM_032520.5:c.247T>A MANE Select	NP_115909.1:p.Phe83Ile