Canonical Allele Identifier: CA394187750

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412246G>T (hg19) ; chr16:g.1362245G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362245G>T , CM000678.2:g.1362245G>T	GRCh38
NC_000016.9:g.1412246G>T , CM000678.1:g.1412246G>T	GRCh37
NC_000016.8:g.1352247G>T	NCBI36
NG_016985.1:g.15347G>T
NG_033129.1:g.57460C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.550G>T
ENST00000529110.2:c.535G>T	ENSP00000435349.2:p.Val179Leu
ENST00000529957.6:n.509G>T
ENST00000683366.1:c.*183G>T	ENSP00000507283.1:n.*183G>T
ENST00000683887.1:c.499G>T	ENSP00000506886.1:p.Val167Leu
ENST00000684100.1:n.445G>T
ENST00000684126.1:n.509G>T
ENST00000684688.1:n.1076G>T
ENST00000204679.9:c.451G>T MANE Select	ENSP00000204679.4:p.Val151Leu
ENST00000204679.8:c.451G>T	ENSP00000204679.4:p.Val151Leu
ENST00000527076.1:n.1467G>T
ENST00000527168.5:n.487G>T
ENST00000529110.1:c.518G>T
ENST00000529957.5:n.550G>T
NM_032520.4:c.451G>T	NP_115909.1:p.Val151Leu
XM_017023782.1:c.499G>T	XP_016879271.1:p.Val167Leu
XM_017023783.1:c.91G>T	XP_016879272.1:p.Val31Leu
NM_032520.5:c.451G>T MANE Select	NP_115909.1:p.Val151Leu