Canonical Allele Identifier: CA394186976

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411926T>G (hg19) ; chr16:g.1361925T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361925T>G , CM000678.2:g.1361925T>G	GRCh38
NC_000016.9:g.1411926T>G , CM000678.1:g.1411926T>G	GRCh37
NC_000016.8:g.1351927T>G	NCBI36
NG_016985.1:g.15027T>G
NG_033129.1:g.57780A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.386T>G
ENST00000529110.2:c.371T>G	ENSP00000435349.2:p.Phe124Cys
ENST00000529957.6:n.345T>G
ENST00000683366.1:c.*19T>G	ENSP00000507283.1:n.*19T>G
ENST00000683887.1:c.335T>G	ENSP00000506886.1:p.Phe112Cys
ENST00000684100.1:n.281T>G
ENST00000684126.1:n.345T>G
ENST00000684688.1:n.912T>G
ENST00000204679.9:c.287T>G MANE Select	ENSP00000204679.4:p.Phe96Cys
ENST00000204679.8:c.287T>G	ENSP00000204679.4:p.Phe96Cys
ENST00000526820.5:c.*189T>G	ENSP00000434413.1:n.*189T>G
ENST00000527076.1:n.1303T>G
ENST00000527168.5:n.323T>G
ENST00000529110.1:c.354T>G
ENST00000529957.5:n.386T>G
NM_032520.4:c.287T>G	NP_115909.1:p.Phe96Cys
XM_017023782.1:c.335T>G	XP_016879271.1:p.Phe112Cys
XM_017023783.1:c.-74T>G	XP_016879272.1:n.-74T>G
NM_032520.5:c.287T>G MANE Select	NP_115909.1:p.Phe96Cys