Canonical Allele Identifier: CA394186882

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411905T>C (hg19) ; chr16:g.1361904T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361904T>C , CM000678.2:g.1361904T>C	GRCh38
NC_000016.9:g.1411905T>C , CM000678.1:g.1411905T>C	GRCh37
NC_000016.8:g.1351906T>C	NCBI36
NG_016985.1:g.15006T>C
NG_033129.1:g.57801A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.365T>C
ENST00000529110.2:c.350T>C	ENSP00000435349.2:p.Val117Ala
ENST00000529957.6:n.324T>C
ENST00000683366.1:c.211T>C	ENSP00000507283.1:p.Ter71Arg
ENST00000683887.1:c.314T>C	ENSP00000506886.1:p.Val105Ala
ENST00000684100.1:n.260T>C
ENST00000684126.1:n.324T>C
ENST00000684688.1:n.891T>C
ENST00000204679.9:c.266T>C MANE Select	ENSP00000204679.4:p.Val89Ala
ENST00000204679.8:c.266T>C	ENSP00000204679.4:p.Val89Ala
ENST00000526820.5:c.*168T>C	ENSP00000434413.1:n.*168T>C
ENST00000527076.1:n.1282T>C
ENST00000527168.5:n.302T>C
ENST00000529110.1:c.333T>C
ENST00000529957.5:n.365T>C
NM_032520.4:c.266T>C	NP_115909.1:p.Val89Ala
XM_017023782.1:c.314T>C	XP_016879271.1:p.Val105Ala
XM_017023783.1:c.-95T>C	XP_016879272.1:n.-95T>C
NM_032520.5:c.266T>C MANE Select	NP_115909.1:p.Val89Ala