Canonical Allele Identifier: CA394188819

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1469555
• ClinVar RCV Id: RCV001961633
• dbSNP Id: rs2141865648
• MyVariant Identifiers: chr16:g.1412904A>C (hg19) ; chr16:g.1362903A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362903A>C , CM000678.2:g.1362903A>C	GRCh38
NC_000016.9:g.1412904A>C , CM000678.1:g.1412904A>C	GRCh37
NC_000016.8:g.1352905A>C	NCBI36
NG_016985.1:g.16005A>C
NG_033129.1:g.56802T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.919A>C
ENST00000529110.2:c.904A>C	ENSP00000435349.2:p.Thr302Pro
ENST00000529957.6:n.878A>C
ENST00000683366.1:c.*552A>C	ENSP00000507283.1:n.*552A>C
ENST00000683887.1:c.868A>C	ENSP00000506886.1:p.Thr290Pro
ENST00000684100.1:n.814A>C
ENST00000684126.1:n.954A>C
ENST00000684688.1:n.1445A>C
ENST00000204679.9:c.820A>C MANE Select	ENSP00000204679.4:p.Thr274Pro
ENST00000204679.8:c.820A>C	ENSP00000204679.4:p.Thr274Pro
ENST00000527076.1:n.2043A>C
ENST00000527168.5:n.987A>C
ENST00000529957.5:n.919A>C
NM_032520.4:c.820A>C	NP_115909.1:p.Thr274Pro
XM_017023782.1:c.868A>C	XP_016879271.1:p.Thr290Pro
XM_017023783.1:c.460A>C	XP_016879272.1:p.Thr154Pro
NM_032520.5:c.820A>C MANE Select	NP_115909.1:p.Thr274Pro