Canonical Allele Identifier: CA493026720

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2832347
• ClinVar RCV Id: RCV003689461
• MyVariant Identifiers: chr16:g.1412861G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362860G>C , CM000678.2:g.1362860G>C	GRCh38
NC_000016.9:g.1412861G>C , CM000678.1:g.1412861G>C	GRCh37
NC_000016.8:g.1352862G>C	NCBI36
NG_016985.1:g.15962G>C
NG_033129.1:g.56845C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.876G>C
ENST00000529110.2:c.861G>C	ENSP00000435349.2:p.Leu287=
ENST00000529957.6:n.835G>C
ENST00000683366.1:c.*509G>C	ENSP00000507283.1:n.*509G>C
ENST00000683887.1:c.825G>C	ENSP00000506886.1:p.Leu275=
ENST00000684100.1:n.771G>C
ENST00000684126.1:n.911G>C
ENST00000684688.1:n.1402G>C
ENST00000204679.9:c.777G>C MANE Select	ENSP00000204679.4:p.Leu259=
ENST00000204679.8:c.777G>C	ENSP00000204679.4:p.Leu259=
ENST00000527076.1:n.2000G>C
ENST00000527168.5:n.944G>C
ENST00000529957.5:n.876G>C
NM_032520.4:c.777G>C	NP_115909.1:p.Leu259=
XM_017023782.1:c.825G>C	XP_016879271.1:p.Leu275=
XM_017023783.1:c.417G>C	XP_016879272.1:p.Leu139=
NM_032520.5:c.777G>C MANE Select	NP_115909.1:p.Leu259=