Canonical Allele Identifier: CA7807816

Gene: GNPTG

Linked Data

• dbSNP Id: rs770850105
• ExAC: 16:1412522 T / A
• gnomAD v2: 16-1412522-T-A
• gnomAD v3: 16-1362521-T-A
• gnomAD v4: 16-1362521-T-A
• MyVariant Identifiers: chr16:g.1412522T>A (hg19) ; chr16:g.1362521T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362521T>A , CM000678.2:g.1362521T>A	GRCh38
NC_000016.9:g.1412522T>A , CM000678.1:g.1412522T>A	GRCh37
NC_000016.8:g.1352523T>A	NCBI36
NG_016985.1:g.15623T>A
NG_033129.1:g.57184A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.695T>A
ENST00000529110.2:c.680T>A	ENSP00000435349.2:p.Leu227Gln
ENST00000529957.6:n.654T>A
ENST00000683366.1:c.*328T>A	ENSP00000507283.1:n.*328T>A
ENST00000683887.1:c.644T>A	ENSP00000506886.1:p.Leu215Gln
ENST00000684100.1:n.590T>A
ENST00000684126.1:n.654T>A
ENST00000684688.1:n.1221T>A
ENST00000204679.9:c.596T>A MANE Select	ENSP00000204679.4:p.Leu199Gln
ENST00000204679.8:c.596T>A	ENSP00000204679.4:p.Leu199Gln
ENST00000527076.1:n.1743T>A
ENST00000527168.5:n.763T>A
ENST00000529957.5:n.695T>A
NM_032520.4:c.596T>A	NP_115909.1:p.Leu199Gln
XM_017023782.1:c.644T>A	XP_016879271.1:p.Leu215Gln
XM_017023783.1:c.236T>A	XP_016879272.1:p.Leu79Gln
NM_032520.5:c.596T>A MANE Select	NP_115909.1:p.Leu199Gln