Canonical Allele Identifier: CA394187885

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412277T>C (hg19) ; chr16:g.1362276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362276T>C , CM000678.2:g.1362276T>C	GRCh38
NC_000016.9:g.1412277T>C , CM000678.1:g.1412277T>C	GRCh37
NC_000016.8:g.1352278T>C	NCBI36
NG_016985.1:g.15378T>C
NG_033129.1:g.57429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.581T>C
ENST00000529110.2:c.566T>C	ENSP00000435349.2:p.Leu189Pro
ENST00000529957.6:n.540T>C
ENST00000683366.1:c.*214T>C	ENSP00000507283.1:n.*214T>C
ENST00000683887.1:c.530T>C	ENSP00000506886.1:p.Leu177Pro
ENST00000684100.1:n.476T>C
ENST00000684126.1:n.540T>C
ENST00000684688.1:n.1107T>C
ENST00000204679.9:c.482T>C MANE Select	ENSP00000204679.4:p.Leu161Pro
ENST00000204679.8:c.482T>C	ENSP00000204679.4:p.Leu161Pro
ENST00000527076.1:n.1498T>C
ENST00000527168.5:n.518T>C
ENST00000529110.1:c.549T>C
ENST00000529957.5:n.581T>C
NM_032520.4:c.482T>C	NP_115909.1:p.Leu161Pro
XM_017023782.1:c.530T>C	XP_016879271.1:p.Leu177Pro
XM_017023783.1:c.122T>C	XP_016879272.1:p.Leu41Pro
NM_032520.5:c.482T>C MANE Select	NP_115909.1:p.Leu161Pro