Canonical Allele Identifier: CA394187171

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412043T>C (hg19) ; chr16:g.1362042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362042T>C , CM000678.2:g.1362042T>C	GRCh38
NC_000016.9:g.1412043T>C , CM000678.1:g.1412043T>C	GRCh37
NC_000016.8:g.1352044T>C	NCBI36
NG_016985.1:g.15144T>C
NG_033129.1:g.57663A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.421T>C
ENST00000529110.2:c.406T>C	ENSP00000435349.2:p.Trp136Arg
ENST00000529957.6:n.380T>C
ENST00000683366.1:c.*54T>C	ENSP00000507283.1:n.*54T>C
ENST00000683887.1:c.370T>C	ENSP00000506886.1:p.Trp124Arg
ENST00000684100.1:n.316T>C
ENST00000684126.1:n.380T>C
ENST00000684688.1:n.947T>C
ENST00000204679.9:c.322T>C MANE Select	ENSP00000204679.4:p.Trp108Arg
ENST00000204679.8:c.322T>C	ENSP00000204679.4:p.Trp108Arg
ENST00000526820.5:c.*224T>C	ENSP00000434413.1:n.*224T>C
ENST00000527076.1:n.1338T>C
ENST00000527168.5:n.358T>C
ENST00000529110.1:c.389T>C
ENST00000529957.5:n.421T>C
NM_032520.4:c.322T>C	NP_115909.1:p.Trp108Arg
XM_017023782.1:c.370T>C	XP_016879271.1:p.Trp124Arg
XM_017023783.1:c.-39T>C	XP_016879272.1:n.-39T>C
NM_032520.5:c.322T>C MANE Select	NP_115909.1:p.Trp108Arg