Canonical Allele Identifier: CA394188401

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412622A>T (hg19) ; chr16:g.1362621A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362621A>T , CM000678.2:g.1362621A>T	GRCh38
NC_000016.9:g.1412622A>T , CM000678.1:g.1412622A>T	GRCh37
NC_000016.8:g.1352623A>T	NCBI36
NG_016985.1:g.15723A>T
NG_033129.1:g.57084T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.719A>T
ENST00000529110.2:c.704A>T	ENSP00000435349.2:p.Lys235Met
ENST00000529957.6:n.678A>T
ENST00000683366.1:c.*352A>T	ENSP00000507283.1:n.*352A>T
ENST00000683887.1:c.668A>T	ENSP00000506886.1:p.Lys223Met
ENST00000684100.1:n.614A>T
ENST00000684126.1:n.754A>T
ENST00000684688.1:n.1245A>T
ENST00000204679.9:c.620A>T MANE Select	ENSP00000204679.4:p.Lys207Met
ENST00000204679.8:c.620A>T	ENSP00000204679.4:p.Lys207Met
ENST00000527076.1:n.1843A>T
ENST00000527168.5:n.787A>T
ENST00000529957.5:n.719A>T
NM_032520.4:c.620A>T	NP_115909.1:p.Lys207Met
XM_017023782.1:c.668A>T	XP_016879271.1:p.Lys223Met
XM_017023783.1:c.260A>T	XP_016879272.1:p.Lys87Met
NM_032520.5:c.620A>T MANE Select	NP_115909.1:p.Lys207Met