Canonical Allele Identifier: CA394188636

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362735-G-T
• MyVariant Identifiers: chr16:g.1412736G>T (hg19) ; chr16:g.1362735G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362735G>T , CM000678.2:g.1362735G>T	GRCh38
NC_000016.9:g.1412736G>T , CM000678.1:g.1412736G>T	GRCh37
NC_000016.8:g.1352737G>T	NCBI36
NG_016985.1:g.15837G>T
NG_033129.1:g.56970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.833G>T
ENST00000529110.2:c.818G>T	ENSP00000435349.2:p.Cys273Phe
ENST00000529957.6:n.792G>T
ENST00000683366.1:c.*466G>T	ENSP00000507283.1:n.*466G>T
ENST00000683887.1:c.782G>T	ENSP00000506886.1:p.Cys261Phe
ENST00000684100.1:n.728G>T
ENST00000684126.1:n.868G>T
ENST00000684688.1:n.1359G>T
ENST00000204679.9:c.734G>T MANE Select	ENSP00000204679.4:p.Cys245Phe
ENST00000204679.8:c.734G>T	ENSP00000204679.4:p.Cys245Phe
ENST00000527076.1:n.1957G>T
ENST00000527168.5:n.901G>T
ENST00000529957.5:n.833G>T
NM_032520.4:c.734G>T	NP_115909.1:p.Cys245Phe
XM_017023782.1:c.782G>T	XP_016879271.1:p.Cys261Phe
XM_017023783.1:c.374G>T	XP_016879272.1:p.Cys125Phe
NM_032520.5:c.734G>T MANE Select	NP_115909.1:p.Cys245Phe