Canonical Allele Identifier: CA493026660

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1593504
• ClinVar RCV Id: RCV002122495
• dbSNP Id: rs2141864212
• MyVariant Identifiers: chr16:g.1412711T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362710T>C , CM000678.2:g.1362710T>C	GRCh38
NC_000016.9:g.1412711T>C , CM000678.1:g.1412711T>C	GRCh37
NC_000016.8:g.1352712T>C	NCBI36
NG_016985.1:g.15812T>C
NG_033129.1:g.56995A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.808T>C
ENST00000529110.2:c.793T>C	ENSP00000435349.2:p.Leu265=
ENST00000529957.6:n.767T>C
ENST00000683366.1:c.*441T>C	ENSP00000507283.1:n.*441T>C
ENST00000683887.1:c.757T>C	ENSP00000506886.1:p.Leu253=
ENST00000684100.1:n.703T>C
ENST00000684126.1:n.843T>C
ENST00000684688.1:n.1334T>C
ENST00000204679.9:c.709T>C MANE Select	ENSP00000204679.4:p.Leu237=
ENST00000204679.8:c.709T>C	ENSP00000204679.4:p.Leu237=
ENST00000527076.1:n.1932T>C
ENST00000527168.5:n.876T>C
ENST00000529957.5:n.808T>C
NM_032520.4:c.709T>C	NP_115909.1:p.Leu237=
XM_017023782.1:c.757T>C	XP_016879271.1:p.Leu253=
XM_017023783.1:c.349T>C	XP_016879272.1:p.Leu117=
NM_032520.5:c.709T>C MANE Select	NP_115909.1:p.Leu237=