Canonical Allele Identifier: CA394187096

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2866925
• ClinVar RCV Id: RCV003700460
• MyVariant Identifiers: chr16:g.1411958T>A (hg19) ; chr16:g.1361957T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361957T>A , CM000678.2:g.1361957T>A	GRCh38
NC_000016.9:g.1411958T>A , CM000678.1:g.1411958T>A	GRCh37
NC_000016.8:g.1351959T>A	NCBI36
NG_016985.1:g.15059T>A
NG_033129.1:g.57748A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.416+2T>A
ENST00000529110.2:c.401+2T>A	ENSP00000435349.2:n.401+2T>A
ENST00000529957.6:n.375+2T>A
ENST00000683366.1:c.*49+2T>A	ENSP00000507283.1:n.*49+2T>A
ENST00000683887.1:c.365+2T>A	ENSP00000506886.1:n.365+2T>A
ENST00000684100.1:n.311+2T>A
ENST00000684126.1:n.375+2T>A
ENST00000684688.1:n.942+2T>A
ENST00000204679.9:c.317+2T>A MANE Select	ENSP00000204679.4:n.317+2T>A
ENST00000204679.8:c.317+2T>A	ENSP00000204679.4:n.317+2T>A
ENST00000526820.5:c.*219+2T>A	ENSP00000434413.1:n.*219+2T>A
ENST00000527076.1:n.1333+2T>A
ENST00000527168.5:n.353+2T>A
ENST00000529110.1:c.384+2T>A
ENST00000529957.5:n.416+2T>A
NM_032520.4:c.317+2T>A	NP_115909.1:n.317+2T>A
XM_017023782.1:c.365+2T>A	XP_016879271.1:n.365+2T>A
XM_017023783.1:c.-44+2T>A	XP_016879272.1:n.-44+2T>A
NM_032520.5:c.317+2T>A MANE Select	NP_115909.1:n.317+2T>A