Canonical Allele Identifier: CA394188631

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412735T>A (hg19) ; chr16:g.1362734T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362734T>A , CM000678.2:g.1362734T>A	GRCh38
NC_000016.9:g.1412735T>A , CM000678.1:g.1412735T>A	GRCh37
NC_000016.8:g.1352736T>A	NCBI36
NG_016985.1:g.15836T>A
NG_033129.1:g.56971A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.832T>A
ENST00000529110.2:c.817T>A	ENSP00000435349.2:p.Cys273Ser
ENST00000529957.6:n.791T>A
ENST00000683366.1:c.*465T>A	ENSP00000507283.1:n.*465T>A
ENST00000683887.1:c.781T>A	ENSP00000506886.1:p.Cys261Ser
ENST00000684100.1:n.727T>A
ENST00000684126.1:n.867T>A
ENST00000684688.1:n.1358T>A
ENST00000204679.9:c.733T>A MANE Select	ENSP00000204679.4:p.Cys245Ser
ENST00000204679.8:c.733T>A	ENSP00000204679.4:p.Cys245Ser
ENST00000527076.1:n.1956T>A
ENST00000527168.5:n.900T>A
ENST00000529957.5:n.832T>A
NM_032520.4:c.733T>A	NP_115909.1:p.Cys245Ser
XM_017023782.1:c.781T>A	XP_016879271.1:p.Cys261Ser
XM_017023783.1:c.373T>A	XP_016879272.1:p.Cys125Ser
NM_032520.5:c.733T>A MANE Select	NP_115909.1:p.Cys245Ser