Canonical Allele Identifier: CA394186874

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411904G>C (hg19) ; chr16:g.1361903G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361903G>C , CM000678.2:g.1361903G>C	GRCh38
NC_000016.9:g.1411904G>C , CM000678.1:g.1411904G>C	GRCh37
NC_000016.8:g.1351905G>C	NCBI36
NG_016985.1:g.15005G>C
NG_033129.1:g.57802C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.364G>C
ENST00000529110.2:c.349G>C	ENSP00000435349.2:p.Val117Leu
ENST00000529957.6:n.323G>C
ENST00000683366.1:c.210G>C	ENSP00000507283.1:p.Thr70=
ENST00000683887.1:c.313G>C	ENSP00000506886.1:p.Val105Leu
ENST00000684100.1:n.259G>C
ENST00000684126.1:n.323G>C
ENST00000684688.1:n.890G>C
ENST00000204679.9:c.265G>C MANE Select	ENSP00000204679.4:p.Val89Leu
ENST00000204679.8:c.265G>C	ENSP00000204679.4:p.Val89Leu
ENST00000526820.5:c.*167G>C	ENSP00000434413.1:n.*167G>C
ENST00000527076.1:n.1281G>C
ENST00000527168.5:n.301G>C
ENST00000529110.1:c.332G>C
ENST00000529957.5:n.364G>C
NM_032520.4:c.265G>C	NP_115909.1:p.Val89Leu
XM_017023782.1:c.313G>C	XP_016879271.1:p.Val105Leu
XM_017023783.1:c.-96G>C	XP_016879272.1:n.-96G>C
NM_032520.5:c.265G>C MANE Select	NP_115909.1:p.Val89Leu