Canonical Allele Identifier: CA394186972

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1450342
• ClinVar RCV Id: RCV001990099
• dbSNP Id: rs1293958669
• gnomAD v3: 16-1361924-T-C
• gnomAD v4: 16-1361924-T-C
• MyVariant Identifiers: chr16:g.1411925T>C (hg19) ; chr16:g.1361924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361924T>C , CM000678.2:g.1361924T>C	GRCh38
NC_000016.9:g.1411925T>C , CM000678.1:g.1411925T>C	GRCh37
NC_000016.8:g.1351926T>C	NCBI36
NG_016985.1:g.15026T>C
NG_033129.1:g.57781A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.385T>C
ENST00000529110.2:c.370T>C	ENSP00000435349.2:p.Phe124Leu
ENST00000529957.6:n.344T>C
ENST00000683366.1:c.*18T>C	ENSP00000507283.1:n.*18T>C
ENST00000683887.1:c.334T>C	ENSP00000506886.1:p.Phe112Leu
ENST00000684100.1:n.280T>C
ENST00000684126.1:n.344T>C
ENST00000684688.1:n.911T>C
ENST00000204679.9:c.286T>C MANE Select	ENSP00000204679.4:p.Phe96Leu
ENST00000204679.8:c.286T>C	ENSP00000204679.4:p.Phe96Leu
ENST00000526820.5:c.*188T>C	ENSP00000434413.1:n.*188T>C
ENST00000527076.1:n.1302T>C
ENST00000527168.5:n.322T>C
ENST00000529110.1:c.353T>C
ENST00000529957.5:n.385T>C
NM_032520.4:c.286T>C	NP_115909.1:p.Phe96Leu
XM_017023782.1:c.334T>C	XP_016879271.1:p.Phe112Leu
XM_017023783.1:c.-75T>C	XP_016879272.1:n.-75T>C
NM_032520.5:c.286T>C MANE Select	NP_115909.1:p.Phe96Leu