Canonical Allele Identifier: CA394187937

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362306-C-G
• MyVariant Identifiers: chr16:g.1412307C>G (hg19) ; chr16:g.1362306C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362306C>G , CM000678.2:g.1362306C>G	GRCh38
NC_000016.9:g.1412307C>G , CM000678.1:g.1412307C>G	GRCh37
NC_000016.8:g.1352308C>G	NCBI36
NG_016985.1:g.15408C>G
NG_033129.1:g.57399G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.611C>G
ENST00000529110.2:c.596C>G	ENSP00000435349.2:p.Pro199Arg
ENST00000529957.6:n.570C>G
ENST00000683366.1:c.*244C>G	ENSP00000507283.1:n.*244C>G
ENST00000683887.1:c.560C>G	ENSP00000506886.1:p.Pro187Arg
ENST00000684100.1:n.506C>G
ENST00000684126.1:n.570C>G
ENST00000684688.1:n.1137C>G
ENST00000204679.9:c.512C>G MANE Select	ENSP00000204679.4:p.Pro171Arg
ENST00000204679.8:c.512C>G	ENSP00000204679.4:p.Pro171Arg
ENST00000527076.1:n.1528C>G
ENST00000527168.5:n.548C>G
ENST00000529957.5:n.611C>G
NM_032520.4:c.512C>G	NP_115909.1:p.Pro171Arg
XM_017023782.1:c.560C>G	XP_016879271.1:p.Pro187Arg
XM_017023783.1:c.152C>G	XP_016879272.1:p.Pro51Arg
NM_032520.5:c.512C>G MANE Select	NP_115909.1:p.Pro171Arg