Canonical Allele Identifier: CA276656635

Gene: GNPTG

Linked Data

• dbSNP Id: rs768511134
• MyVariant Identifiers: chr16:g.1411927C>A (hg19) ; chr16:g.1361926C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361926C>A , CM000678.2:g.1361926C>A	GRCh38
NC_000016.9:g.1411927C>A , CM000678.1:g.1411927C>A	GRCh37
NC_000016.8:g.1351928C>A	NCBI36
NG_016985.1:g.15028C>A
NG_033129.1:g.57779G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.387C>A
ENST00000529110.2:c.372C>A	ENSP00000435349.2:p.Phe124Leu
ENST00000529957.6:n.346C>A
ENST00000683366.1:c.*20C>A	ENSP00000507283.1:n.*20C>A
ENST00000683887.1:c.336C>A	ENSP00000506886.1:p.Phe112Leu
ENST00000684100.1:n.282C>A
ENST00000684126.1:n.346C>A
ENST00000684688.1:n.913C>A
ENST00000204679.9:c.288C>A MANE Select	ENSP00000204679.4:p.Phe96Leu
ENST00000204679.8:c.288C>A	ENSP00000204679.4:p.Phe96Leu
ENST00000526820.5:c.*190C>A	ENSP00000434413.1:n.*190C>A
ENST00000527076.1:n.1304C>A
ENST00000527168.5:n.324C>A
ENST00000529110.1:c.355C>A
ENST00000529957.5:n.387C>A
NM_032520.4:c.288C>A	NP_115909.1:p.Phe96Leu
XM_017023782.1:c.336C>A	XP_016879271.1:p.Phe112Leu
XM_017023783.1:c.-73C>A	XP_016879272.1:n.-73C>A
NM_032520.5:c.288C>A MANE Select	NP_115909.1:p.Phe96Leu