Canonical Allele Identifier: CA394186729

Gene: GNPTG

Linked Data

• COSMIC: COSM4058421
• MyVariant Identifiers: chr16:g.1411874T>C (hg19) ; chr16:g.1361873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361873T>C , CM000678.2:g.1361873T>C	GRCh38
NC_000016.9:g.1411874T>C , CM000678.1:g.1411874T>C	GRCh37
NC_000016.8:g.1351875T>C	NCBI36
NG_016985.1:g.14975T>C
NG_033129.1:g.57832A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.334T>C
ENST00000529110.2:c.319T>C	ENSP00000435349.2:p.Tyr107His
ENST00000529957.6:n.293T>C
ENST00000683366.1:c.180T>C	ENSP00000507283.1:p.Gly60=
ENST00000683887.1:c.283T>C	ENSP00000506886.1:p.Tyr95His
ENST00000684100.1:n.229T>C
ENST00000684126.1:n.293T>C
ENST00000684688.1:n.860T>C
ENST00000204679.9:c.235T>C MANE Select	ENSP00000204679.4:p.Tyr79His
ENST00000204679.8:c.235T>C	ENSP00000204679.4:p.Tyr79His
ENST00000526820.5:c.*137T>C	ENSP00000434413.1:n.*137T>C
ENST00000527076.1:n.1251T>C
ENST00000527168.5:n.271T>C
ENST00000529110.1:c.302T>C
ENST00000529957.5:n.334T>C
NM_032520.4:c.235T>C	NP_115909.1:p.Tyr79His
XM_017023782.1:c.283T>C	XP_016879271.1:p.Tyr95His
XM_017023783.1:c.-126T>C	XP_016879272.1:n.-126T>C
NM_032520.5:c.235T>C MANE Select	NP_115909.1:p.Tyr79His