Canonical Allele Identifier: CA493026652

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2697650
• ClinVar RCV Id: RCV003549392
• MyVariant Identifiers: chr16:g.1412624T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362623T>C , CM000678.2:g.1362623T>C	GRCh38
NC_000016.9:g.1412624T>C , CM000678.1:g.1412624T>C	GRCh37
NC_000016.8:g.1352625T>C	NCBI36
NG_016985.1:g.15725T>C
NG_033129.1:g.57082A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.721T>C
ENST00000529110.2:c.706T>C	ENSP00000435349.2:p.Leu236=
ENST00000529957.6:n.680T>C
ENST00000683366.1:c.*354T>C	ENSP00000507283.1:n.*354T>C
ENST00000683887.1:c.670T>C	ENSP00000506886.1:p.Leu224=
ENST00000684100.1:n.616T>C
ENST00000684126.1:n.756T>C
ENST00000684688.1:n.1247T>C
ENST00000204679.9:c.622T>C MANE Select	ENSP00000204679.4:p.Leu208=
ENST00000204679.8:c.622T>C	ENSP00000204679.4:p.Leu208=
ENST00000527076.1:n.1845T>C
ENST00000527168.5:n.789T>C
ENST00000529957.5:n.721T>C
NM_032520.4:c.622T>C	NP_115909.1:p.Leu208=
XM_017023782.1:c.670T>C	XP_016879271.1:p.Leu224=
XM_017023783.1:c.262T>C	XP_016879272.1:p.Leu88=
NM_032520.5:c.622T>C MANE Select	NP_115909.1:p.Leu208=