Canonical Allele Identifier: CA7807855

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1384980
• ClinVar RCV Id: RCV001902738
• dbSNP Id: rs757003667
• ExAC: 16:1412625 T / G
• gnomAD v2: 16-1412625-T-G
• gnomAD v3: 16-1362624-T-G
• gnomAD v4: 16-1362624-T-G
• MyVariant Identifiers: chr16:g.1412625T>G (hg19) ; chr16:g.1362624T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362624T>G , CM000678.2:g.1362624T>G	GRCh38
NC_000016.9:g.1412625T>G , CM000678.1:g.1412625T>G	GRCh37
NC_000016.8:g.1352626T>G	NCBI36
NG_016985.1:g.15726T>G
NG_033129.1:g.57081A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.722T>G
ENST00000529110.2:c.707T>G	ENSP00000435349.2:p.Leu236Trp
ENST00000529957.6:n.681T>G
ENST00000683366.1:c.*355T>G	ENSP00000507283.1:n.*355T>G
ENST00000683887.1:c.671T>G	ENSP00000506886.1:p.Leu224Trp
ENST00000684100.1:n.617T>G
ENST00000684126.1:n.757T>G
ENST00000684688.1:n.1248T>G
ENST00000204679.9:c.623T>G MANE Select	ENSP00000204679.4:p.Leu208Trp
ENST00000204679.8:c.623T>G	ENSP00000204679.4:p.Leu208Trp
ENST00000527076.1:n.1846T>G
ENST00000527168.5:n.790T>G
ENST00000529957.5:n.722T>G
NM_032520.4:c.623T>G	NP_115909.1:p.Leu208Trp
XM_017023782.1:c.671T>G	XP_016879271.1:p.Leu224Trp
XM_017023783.1:c.263T>G	XP_016879272.1:p.Leu88Trp
NM_032520.5:c.623T>G MANE Select	NP_115909.1:p.Leu208Trp