Canonical Allele Identifier: CA394188414

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362627-T-G
• MyVariant Identifiers: chr16:g.1412628T>G (hg19) ; chr16:g.1362627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362627T>G , CM000678.2:g.1362627T>G	GRCh38
NC_000016.9:g.1412628T>G , CM000678.1:g.1412628T>G	GRCh37
NC_000016.8:g.1352629T>G	NCBI36
NG_016985.1:g.15729T>G
NG_033129.1:g.57078A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.725T>G
ENST00000529110.2:c.710T>G	ENSP00000435349.2:p.Leu237Arg
ENST00000529957.6:n.684T>G
ENST00000683366.1:c.*358T>G	ENSP00000507283.1:n.*358T>G
ENST00000683887.1:c.674T>G	ENSP00000506886.1:p.Leu225Arg
ENST00000684100.1:n.620T>G
ENST00000684126.1:n.760T>G
ENST00000684688.1:n.1251T>G
ENST00000204679.9:c.626T>G MANE Select	ENSP00000204679.4:p.Leu209Arg
ENST00000204679.8:c.626T>G	ENSP00000204679.4:p.Leu209Arg
ENST00000527076.1:n.1849T>G
ENST00000527168.5:n.793T>G
ENST00000529957.5:n.725T>G
NM_032520.4:c.626T>G	NP_115909.1:p.Leu209Arg
XM_017023782.1:c.674T>G	XP_016879271.1:p.Leu225Arg
XM_017023783.1:c.266T>G	XP_016879272.1:p.Leu89Arg
NM_032520.5:c.626T>G MANE Select	NP_115909.1:p.Leu209Arg