Canonical Allele Identifier: CA394186817

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411890G>T (hg19) ; chr16:g.1361889G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361889G>T , CM000678.2:g.1361889G>T	GRCh38
NC_000016.9:g.1411890G>T , CM000678.1:g.1411890G>T	GRCh37
NC_000016.8:g.1351891G>T	NCBI36
NG_016985.1:g.14991G>T
NG_033129.1:g.57816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.350G>T
ENST00000529110.2:c.335G>T	ENSP00000435349.2:p.Cys112Phe
ENST00000529957.6:n.309G>T
ENST00000683366.1:c.196G>T	ENSP00000507283.1:p.Ala66Ser
ENST00000683887.1:c.299G>T	ENSP00000506886.1:p.Cys100Phe
ENST00000684100.1:n.245G>T
ENST00000684126.1:n.309G>T
ENST00000684688.1:n.876G>T
ENST00000204679.9:c.251G>T MANE Select	ENSP00000204679.4:p.Cys84Phe
ENST00000204679.8:c.251G>T	ENSP00000204679.4:p.Cys84Phe
ENST00000526820.5:c.*153G>T	ENSP00000434413.1:n.*153G>T
ENST00000527076.1:n.1267G>T
ENST00000527168.5:n.287G>T
ENST00000529110.1:c.318G>T
ENST00000529957.5:n.350G>T
NM_032520.4:c.251G>T	NP_115909.1:p.Cys84Phe
XM_017023782.1:c.299G>T	XP_016879271.1:p.Cys100Phe
XM_017023783.1:c.-110G>T	XP_016879272.1:n.-110G>T
NM_032520.5:c.251G>T MANE Select	NP_115909.1:p.Cys84Phe