Canonical Allele Identifier: CA394188590

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1432652
• ClinVar RCV Id: RCV001982068
• dbSNP Id: rs2141864288
• MyVariant Identifiers: chr16:g.1412717T>C (hg19) ; chr16:g.1362716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362716T>C , CM000678.2:g.1362716T>C	GRCh38
NC_000016.9:g.1412717T>C , CM000678.1:g.1412717T>C	GRCh37
NC_000016.8:g.1352718T>C	NCBI36
NG_016985.1:g.15818T>C
NG_033129.1:g.56989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.814T>C
ENST00000529110.2:c.799T>C	ENSP00000435349.2:p.Phe267Leu
ENST00000529957.6:n.773T>C
ENST00000683366.1:c.*447T>C	ENSP00000507283.1:n.*447T>C
ENST00000683887.1:c.763T>C	ENSP00000506886.1:p.Phe255Leu
ENST00000684100.1:n.709T>C
ENST00000684126.1:n.849T>C
ENST00000684688.1:n.1340T>C
ENST00000204679.9:c.715T>C MANE Select	ENSP00000204679.4:p.Phe239Leu
ENST00000204679.8:c.715T>C	ENSP00000204679.4:p.Phe239Leu
ENST00000527076.1:n.1938T>C
ENST00000527168.5:n.882T>C
ENST00000529957.5:n.814T>C
NM_032520.4:c.715T>C	NP_115909.1:p.Phe239Leu
XM_017023782.1:c.763T>C	XP_016879271.1:p.Phe255Leu
XM_017023783.1:c.355T>C	XP_016879272.1:p.Phe119Leu
NM_032520.5:c.715T>C MANE Select	NP_115909.1:p.Phe239Leu