Canonical Allele Identifier: CA394188637

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1685858
• ClinVar RCV Id: RCV002250025
• dbSNP Id: rs2141864418
• MyVariant Identifiers: chr16:g.1412737C>A (hg19) ; chr16:g.1362736C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362736C>A , CM000678.2:g.1362736C>A	GRCh38
NC_000016.9:g.1412737C>A , CM000678.1:g.1412737C>A	GRCh37
NC_000016.8:g.1352738C>A	NCBI36
NG_016985.1:g.15838C>A
NG_033129.1:g.56969G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.834C>A
ENST00000529110.2:c.819C>A	ENSP00000435349.2:p.Cys273Ter
ENST00000529957.6:n.793C>A
ENST00000683366.1:c.*467C>A	ENSP00000507283.1:n.*467C>A
ENST00000683887.1:c.783C>A	ENSP00000506886.1:p.Cys261Ter
ENST00000684100.1:n.729C>A
ENST00000684126.1:n.869C>A
ENST00000684688.1:n.1360C>A
ENST00000204679.9:c.735C>A MANE Select	ENSP00000204679.4:p.Cys245Ter
ENST00000204679.8:c.735C>A	ENSP00000204679.4:p.Cys245Ter
ENST00000527076.1:n.1958C>A
ENST00000527168.5:n.902C>A
ENST00000529957.5:n.834C>A
NM_032520.4:c.735C>A	NP_115909.1:p.Cys245Ter
XM_017023782.1:c.783C>A	XP_016879271.1:p.Cys261Ter
XM_017023783.1:c.375C>A	XP_016879272.1:p.Cys125Ter
NM_032520.5:c.735C>A MANE Select	NP_115909.1:p.Cys245Ter