Canonical Allele Identifier: CA394187224

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412058A>G (hg19) ; chr16:g.1362057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362057A>G , CM000678.2:g.1362057A>G	GRCh38
NC_000016.9:g.1412058A>G , CM000678.1:g.1412058A>G	GRCh37
NC_000016.8:g.1352059A>G	NCBI36
NG_016985.1:g.15159A>G
NG_033129.1:g.57648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.436A>G
ENST00000529110.2:c.421A>G	ENSP00000435349.2:p.Ile141Val
ENST00000529957.6:n.395A>G
ENST00000683366.1:c.*69A>G	ENSP00000507283.1:n.*69A>G
ENST00000683887.1:c.385A>G	ENSP00000506886.1:p.Ile129Val
ENST00000684100.1:n.331A>G
ENST00000684126.1:n.395A>G
ENST00000684688.1:n.962A>G
ENST00000204679.9:c.337A>G MANE Select	ENSP00000204679.4:p.Ile113Val
ENST00000204679.8:c.337A>G	ENSP00000204679.4:p.Ile113Val
ENST00000526820.5:c.*239A>G	ENSP00000434413.1:n.*239A>G
ENST00000527076.1:n.1353A>G
ENST00000527168.5:n.373A>G
ENST00000529110.1:c.404A>G
ENST00000529957.5:n.436A>G
NM_032520.4:c.337A>G	NP_115909.1:p.Ile113Val
XM_017023782.1:c.385A>G	XP_016879271.1:p.Ile129Val
XM_017023783.1:c.-24A>G	XP_016879272.1:n.-24A>G
NM_032520.5:c.337A>G MANE Select	NP_115909.1:p.Ile113Val