Canonical Allele Identifier: CA394188076

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412465T>G (hg19) ; chr16:g.1362464T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362464T>G , CM000678.2:g.1362464T>G	GRCh38
NC_000016.9:g.1412465T>G , CM000678.1:g.1412465T>G	GRCh37
NC_000016.8:g.1352466T>G	NCBI36
NG_016985.1:g.15566T>G
NG_033129.1:g.57241A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.638T>G
ENST00000529110.2:c.623T>G	ENSP00000435349.2:p.Leu208Arg
ENST00000529957.6:n.597T>G
ENST00000683366.1:c.*271T>G	ENSP00000507283.1:n.*271T>G
ENST00000683887.1:c.587T>G	ENSP00000506886.1:p.Leu196Arg
ENST00000684100.1:n.533T>G
ENST00000684126.1:n.597T>G
ENST00000684688.1:n.1164T>G
ENST00000204679.9:c.539T>G MANE Select	ENSP00000204679.4:p.Leu180Arg
ENST00000204679.8:c.539T>G	ENSP00000204679.4:p.Leu180Arg
ENST00000527076.1:n.1686T>G
ENST00000527168.5:n.706T>G
ENST00000529957.5:n.638T>G
NM_032520.4:c.539T>G	NP_115909.1:p.Leu180Arg
XM_017023782.1:c.587T>G	XP_016879271.1:p.Leu196Arg
XM_017023783.1:c.179T>G	XP_016879272.1:p.Leu60Arg
NM_032520.5:c.539T>G MANE Select	NP_115909.1:p.Leu180Arg