Canonical Allele Identifier: CA7807597

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2132772
• ClinVar RCV Id: RCV003063873
• dbSNP Id: rs774673554
• ExAC: 16:1411954 C / G
• gnomAD v2: 16-1411954-C-G
• gnomAD v4: 16-1361953-C-G
• MyVariant Identifiers: chr16:g.1411954C>G (hg19) ; chr16:g.1361953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361953C>G , CM000678.2:g.1361953C>G	GRCh38
NC_000016.9:g.1411954C>G , CM000678.1:g.1411954C>G	GRCh37
NC_000016.8:g.1351955C>G	NCBI36
NG_016985.1:g.15055C>G
NG_033129.1:g.57752G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.414C>G
ENST00000529110.2:c.399C>G	ENSP00000435349.2:p.Leu133=
ENST00000529957.6:n.373C>G
ENST00000683366.1:c.*47C>G	ENSP00000507283.1:n.*47C>G
ENST00000683887.1:c.363C>G	ENSP00000506886.1:p.Leu121=
ENST00000684100.1:n.309C>G
ENST00000684126.1:n.373C>G
ENST00000684688.1:n.940C>G
ENST00000204679.9:c.315C>G MANE Select	ENSP00000204679.4:p.Leu105=
ENST00000204679.8:c.315C>G	ENSP00000204679.4:p.Leu105=
ENST00000526820.5:c.*217C>G	ENSP00000434413.1:n.*217C>G
ENST00000527076.1:n.1331C>G
ENST00000527168.5:n.351C>G
ENST00000529110.1:c.382C>G
ENST00000529957.5:n.414C>G
NM_032520.4:c.315C>G	NP_115909.1:p.Leu105=
XM_017023782.1:c.363C>G	XP_016879271.1:p.Leu121=
XM_017023783.1:c.-46C>G	XP_016879272.1:n.-46C>G
NM_032520.5:c.315C>G MANE Select	NP_115909.1:p.Leu105=