Canonical Allele Identifier: CA394187713

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412237C>A (hg19) ; chr16:g.1362236C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362236C>A , CM000678.2:g.1362236C>A	GRCh38
NC_000016.9:g.1412237C>A , CM000678.1:g.1412237C>A	GRCh37
NC_000016.8:g.1352238C>A	NCBI36
NG_016985.1:g.15338C>A
NG_033129.1:g.57469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.541C>A
ENST00000529110.2:c.526C>A	ENSP00000435349.2:p.Leu176Met
ENST00000529957.6:n.500C>A
ENST00000683366.1:c.*174C>A	ENSP00000507283.1:n.*174C>A
ENST00000683887.1:c.490C>A	ENSP00000506886.1:p.Leu164Met
ENST00000684100.1:n.436C>A
ENST00000684126.1:n.500C>A
ENST00000684688.1:n.1067C>A
ENST00000204679.9:c.442C>A MANE Select	ENSP00000204679.4:p.Leu148Met
ENST00000204679.8:c.442C>A	ENSP00000204679.4:p.Leu148Met
ENST00000527076.1:n.1458C>A
ENST00000527168.5:n.478C>A
ENST00000529110.1:c.509C>A
ENST00000529957.5:n.541C>A
NM_032520.4:c.442C>A	NP_115909.1:p.Leu148Met
XM_017023782.1:c.490C>A	XP_016879271.1:p.Leu164Met
XM_017023783.1:c.82C>A	XP_016879272.1:p.Leu28Met
NM_032520.5:c.442C>A MANE Select	NP_115909.1:p.Leu148Met