Canonical Allele Identifier: CA394188336

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362520-C-G
• MyVariant Identifiers: chr16:g.1412521C>G (hg19) ; chr16:g.1362520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362520C>G , CM000678.2:g.1362520C>G	GRCh38
NC_000016.9:g.1412521C>G , CM000678.1:g.1412521C>G	GRCh37
NC_000016.8:g.1352522C>G	NCBI36
NG_016985.1:g.15622C>G
NG_033129.1:g.57185G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.694C>G
ENST00000529110.2:c.679C>G	ENSP00000435349.2:p.Leu227Val
ENST00000529957.6:n.653C>G
ENST00000683366.1:c.*327C>G	ENSP00000507283.1:n.*327C>G
ENST00000683887.1:c.643C>G	ENSP00000506886.1:p.Leu215Val
ENST00000684100.1:n.589C>G
ENST00000684126.1:n.653C>G
ENST00000684688.1:n.1220C>G
ENST00000204679.9:c.595C>G MANE Select	ENSP00000204679.4:p.Leu199Val
ENST00000204679.8:c.595C>G	ENSP00000204679.4:p.Leu199Val
ENST00000527076.1:n.1742C>G
ENST00000527168.5:n.762C>G
ENST00000529957.5:n.694C>G
NM_032520.4:c.595C>G	NP_115909.1:p.Leu199Val
XM_017023782.1:c.643C>G	XP_016879271.1:p.Leu215Val
XM_017023783.1:c.235C>G	XP_016879272.1:p.Leu79Val
NM_032520.5:c.595C>G MANE Select	NP_115909.1:p.Leu199Val