Canonical Allele Identifier: CA394187229

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412061G>C (hg19) ; chr16:g.1362060G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362060G>C , CM000678.2:g.1362060G>C	GRCh38
NC_000016.9:g.1412061G>C , CM000678.1:g.1412061G>C	GRCh37
NC_000016.8:g.1352062G>C	NCBI36
NG_016985.1:g.15162G>C
NG_033129.1:g.57645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.439G>C
ENST00000529110.2:c.424G>C	ENSP00000435349.2:p.Ala142Pro
ENST00000529957.6:n.398G>C
ENST00000683366.1:c.*72G>C	ENSP00000507283.1:n.*72G>C
ENST00000683887.1:c.388G>C	ENSP00000506886.1:p.Ala130Pro
ENST00000684100.1:n.334G>C
ENST00000684126.1:n.398G>C
ENST00000684688.1:n.965G>C
ENST00000204679.9:c.340G>C MANE Select	ENSP00000204679.4:p.Ala114Pro
ENST00000204679.8:c.340G>C	ENSP00000204679.4:p.Ala114Pro
ENST00000526820.5:c.*242G>C	ENSP00000434413.1:n.*242G>C
ENST00000527076.1:n.1356G>C
ENST00000527168.5:n.376G>C
ENST00000529110.1:c.407G>C
ENST00000529957.5:n.439G>C
NM_032520.4:c.340G>C	NP_115909.1:p.Ala114Pro
XM_017023782.1:c.388G>C	XP_016879271.1:p.Ala130Pro
XM_017023783.1:c.-21G>C	XP_016879272.1:n.-21G>C
NM_032520.5:c.340G>C MANE Select	NP_115909.1:p.Ala114Pro