Canonical Allele Identifier: CA394187964

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2709380
• ClinVar RCV Id: RCV003549963
• MyVariant Identifiers: chr16:g.1412322G>C (hg19) ; chr16:g.1362321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362321G>C , CM000678.2:g.1362321G>C	GRCh38
NC_000016.9:g.1412322G>C , CM000678.1:g.1412322G>C	GRCh37
NC_000016.8:g.1352323G>C	NCBI36
NG_016985.1:g.15423G>C
NG_033129.1:g.57384C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+1G>C
ENST00000529110.2:c.610+1G>C	ENSP00000435349.2:n.610+1G>C
ENST00000529957.6:n.584+1G>C
ENST00000683366.1:c.*258+1G>C	ENSP00000507283.1:n.*258+1G>C
ENST00000683887.1:c.574+1G>C	ENSP00000506886.1:n.574+1G>C
ENST00000684100.1:n.520+1G>C
ENST00000684126.1:n.584+1G>C
ENST00000684688.1:n.1151+1G>C
ENST00000204679.9:c.526+1G>C MANE Select	ENSP00000204679.4:n.526+1G>C
ENST00000204679.8:c.526+1G>C	ENSP00000204679.4:n.526+1G>C
ENST00000527076.1:n.1543G>C
ENST00000527168.5:n.563G>C
ENST00000529957.5:n.625+1G>C
NM_032520.4:c.526+1G>C	NP_115909.1:n.526+1G>C
XM_017023782.1:c.574+1G>C	XP_016879271.1:n.574+1G>C
XM_017023783.1:c.166+1G>C	XP_016879272.1:n.166+1G>C
NM_032520.5:c.526+1G>C MANE Select	NP_115909.1:n.526+1G>C