Canonical Allele Identifier: CA394186843

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411896T>C (hg19) ; chr16:g.1361895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361895T>C , CM000678.2:g.1361895T>C	GRCh38
NC_000016.9:g.1411896T>C , CM000678.1:g.1411896T>C	GRCh37
NC_000016.8:g.1351897T>C	NCBI36
NG_016985.1:g.14997T>C
NG_033129.1:g.57810A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.356T>C
ENST00000529110.2:c.341T>C	ENSP00000435349.2:p.Phe114Ser
ENST00000529957.6:n.315T>C
ENST00000683366.1:c.202T>C	ENSP00000507283.1:p.Ser68Pro
ENST00000683887.1:c.305T>C	ENSP00000506886.1:p.Phe102Ser
ENST00000684100.1:n.251T>C
ENST00000684126.1:n.315T>C
ENST00000684688.1:n.882T>C
ENST00000204679.9:c.257T>C MANE Select	ENSP00000204679.4:p.Phe86Ser
ENST00000204679.8:c.257T>C	ENSP00000204679.4:p.Phe86Ser
ENST00000526820.5:c.*159T>C	ENSP00000434413.1:n.*159T>C
ENST00000527076.1:n.1273T>C
ENST00000527168.5:n.293T>C
ENST00000529110.1:c.324T>C
ENST00000529957.5:n.356T>C
NM_032520.4:c.257T>C	NP_115909.1:p.Phe86Ser
XM_017023782.1:c.305T>C	XP_016879271.1:p.Phe102Ser
XM_017023783.1:c.-104T>C	XP_016879272.1:n.-104T>C
NM_032520.5:c.257T>C MANE Select	NP_115909.1:p.Phe86Ser