Canonical Allele Identifier: CA394188436

Gene: GNPTG

Linked Data

• dbSNP Id: rs1352406873
• gnomAD v2: 16-1412641-T-G
• gnomAD v4: 16-1362640-T-G
• MyVariant Identifiers: chr16:g.1412641T>G (hg19) ; chr16:g.1362640T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362640T>G , CM000678.2:g.1362640T>G	GRCh38
NC_000016.9:g.1412641T>G , CM000678.1:g.1412641T>G	GRCh37
NC_000016.8:g.1352642T>G	NCBI36
NG_016985.1:g.15742T>G
NG_033129.1:g.57065A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.738T>G
ENST00000529110.2:c.723T>G	ENSP00000435349.2:p.Phe241Leu
ENST00000529957.6:n.697T>G
ENST00000683366.1:c.*371T>G	ENSP00000507283.1:n.*371T>G
ENST00000683887.1:c.687T>G	ENSP00000506886.1:p.Phe229Leu
ENST00000684100.1:n.633T>G
ENST00000684126.1:n.773T>G
ENST00000684688.1:n.1264T>G
ENST00000204679.9:c.639T>G MANE Select	ENSP00000204679.4:p.Phe213Leu
ENST00000204679.8:c.639T>G	ENSP00000204679.4:p.Phe213Leu
ENST00000527076.1:n.1862T>G
ENST00000527168.5:n.806T>G
ENST00000529957.5:n.738T>G
NM_032520.4:c.639T>G	NP_115909.1:p.Phe213Leu
XM_017023782.1:c.687T>G	XP_016879271.1:p.Phe229Leu
XM_017023783.1:c.279T>G	XP_016879272.1:p.Phe93Leu
NM_032520.5:c.639T>G MANE Select	NP_115909.1:p.Phe213Leu