Canonical Allele Identifier: CA394187611

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412216G>C (hg19) ; chr16:g.1362215G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362215G>C , CM000678.2:g.1362215G>C	GRCh38
NC_000016.9:g.1412216G>C , CM000678.1:g.1412216G>C	GRCh37
NC_000016.8:g.1352217G>C	NCBI36
NG_016985.1:g.15317G>C
NG_033129.1:g.57490C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.520G>C
ENST00000529110.2:c.505G>C	ENSP00000435349.2:p.Ala169Pro
ENST00000529957.6:n.479G>C
ENST00000683366.1:c.*153G>C	ENSP00000507283.1:n.*153G>C
ENST00000683887.1:c.469G>C	ENSP00000506886.1:p.Ala157Pro
ENST00000684100.1:n.415G>C
ENST00000684126.1:n.479G>C
ENST00000684688.1:n.1046G>C
ENST00000204679.9:c.421G>C MANE Select	ENSP00000204679.4:p.Ala141Pro
ENST00000204679.8:c.421G>C	ENSP00000204679.4:p.Ala141Pro
ENST00000527076.1:n.1437G>C
ENST00000527168.5:n.457G>C
ENST00000529110.1:c.488G>C
ENST00000529957.5:n.520G>C
NM_032520.4:c.421G>C	NP_115909.1:p.Ala141Pro
XM_017023782.1:c.469G>C	XP_016879271.1:p.Ala157Pro
XM_017023783.1:c.61G>C	XP_016879272.1:p.Ala21Pro
NM_032520.5:c.421G>C MANE Select	NP_115909.1:p.Ala141Pro