Canonical Allele Identifier: CA394186804

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361887-C-G
• MyVariant Identifiers: chr16:g.1411888C>G (hg19) ; chr16:g.1361887C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361887C>G , CM000678.2:g.1361887C>G	GRCh38
NC_000016.9:g.1411888C>G , CM000678.1:g.1411888C>G	GRCh37
NC_000016.8:g.1351889C>G	NCBI36
NG_016985.1:g.14989C>G
NG_033129.1:g.57818G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.348C>G
ENST00000529110.2:c.333C>G	ENSP00000435349.2:p.Phe111Leu
ENST00000529957.6:n.307C>G
ENST00000683366.1:c.194C>G	ENSP00000507283.1:p.Ser65Cys
ENST00000683887.1:c.297C>G	ENSP00000506886.1:p.Phe99Leu
ENST00000684100.1:n.243C>G
ENST00000684126.1:n.307C>G
ENST00000684688.1:n.874C>G
ENST00000204679.9:c.249C>G MANE Select	ENSP00000204679.4:p.Phe83Leu
ENST00000204679.8:c.249C>G	ENSP00000204679.4:p.Phe83Leu
ENST00000526820.5:c.*151C>G	ENSP00000434413.1:n.*151C>G
ENST00000527076.1:n.1265C>G
ENST00000527168.5:n.285C>G
ENST00000529110.1:c.316C>G
ENST00000529957.5:n.348C>G
NM_032520.4:c.249C>G	NP_115909.1:p.Phe83Leu
XM_017023782.1:c.297C>G	XP_016879271.1:p.Phe99Leu
XM_017023783.1:c.-112C>G	XP_016879272.1:n.-112C>G
NM_032520.5:c.249C>G MANE Select	NP_115909.1:p.Phe83Leu