Canonical Allele Identifier: CA394187568

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 554098
• ClinVar RCV Id: RCV000669666 ; RCV003542311
• dbSNP Id: rs1555451866
• MyVariant Identifiers: chr16:g.1412206G>C (hg19) ; chr16:g.1362205G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362205G>C , CM000678.2:g.1362205G>C	GRCh38
NC_000016.9:g.1412206G>C , CM000678.1:g.1412206G>C	GRCh37
NC_000016.8:g.1352207G>C	NCBI36
NG_016985.1:g.15307G>C
NG_033129.1:g.57500C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-1G>C
ENST00000529110.2:c.496-1G>C	ENSP00000435349.2:n.496-1G>C
ENST00000529957.6:n.470-1G>C
ENST00000683366.1:c.*144-1G>C	ENSP00000507283.1:n.*144-1G>C
ENST00000683887.1:c.460-1G>C	ENSP00000506886.1:n.460-1G>C
ENST00000684100.1:n.406-1G>C
ENST00000684126.1:n.470-1G>C
ENST00000684688.1:n.1037-1G>C
ENST00000204679.9:c.412-1G>C MANE Select	ENSP00000204679.4:n.412-1G>C
ENST00000204679.8:c.412-1G>C	ENSP00000204679.4:n.412-1G>C
ENST00000527076.1:n.1428-1G>C
ENST00000527168.5:n.448-1G>C
ENST00000529110.1:c.479-1G>C
ENST00000529957.5:n.511-1G>C
NM_032520.4:c.412-1G>C	NP_115909.1:n.412-1G>C
XM_017023782.1:c.460-1G>C	XP_016879271.1:n.460-1G>C
XM_017023783.1:c.52-1G>C	XP_016879272.1:n.52-1G>C
NM_032520.5:c.412-1G>C MANE Select	NP_115909.1:n.412-1G>C