Canonical Allele Identifier: CA394187157

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412040A>G (hg19) ; chr16:g.1362039A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362039A>G , CM000678.2:g.1362039A>G	GRCh38
NC_000016.9:g.1412040A>G , CM000678.1:g.1412040A>G	GRCh37
NC_000016.8:g.1352041A>G	NCBI36
NG_016985.1:g.15141A>G
NG_033129.1:g.57666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.418A>G
ENST00000529110.2:c.403A>G	ENSP00000435349.2:p.Ile135Val
ENST00000529957.6:n.377A>G
ENST00000683366.1:c.*51A>G	ENSP00000507283.1:n.*51A>G
ENST00000683887.1:c.367A>G	ENSP00000506886.1:p.Ile123Val
ENST00000684100.1:n.313A>G
ENST00000684126.1:n.377A>G
ENST00000684688.1:n.944A>G
ENST00000204679.9:c.319A>G MANE Select	ENSP00000204679.4:p.Ile107Val
ENST00000204679.8:c.319A>G	ENSP00000204679.4:p.Ile107Val
ENST00000526820.5:c.*221A>G	ENSP00000434413.1:n.*221A>G
ENST00000527076.1:n.1335A>G
ENST00000527168.5:n.355A>G
ENST00000529110.1:c.386A>G
ENST00000529957.5:n.418A>G
NM_032520.4:c.319A>G	NP_115909.1:p.Ile107Val
XM_017023782.1:c.367A>G	XP_016879271.1:p.Ile123Val
XM_017023783.1:c.-42A>G	XP_016879272.1:n.-42A>G
NM_032520.5:c.319A>G MANE Select	NP_115909.1:p.Ile107Val