Canonical Allele Identifier: CA394188804

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362894-A-C
• MyVariant Identifiers: chr16:g.1412895A>C (hg19) ; chr16:g.1362894A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362894A>C , CM000678.2:g.1362894A>C	GRCh38
NC_000016.9:g.1412895A>C , CM000678.1:g.1412895A>C	GRCh37
NC_000016.8:g.1352896A>C	NCBI36
NG_016985.1:g.15996A>C
NG_033129.1:g.56811T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.910A>C
ENST00000529110.2:c.895A>C	ENSP00000435349.2:p.Thr299Pro
ENST00000529957.6:n.869A>C
ENST00000683366.1:c.*543A>C	ENSP00000507283.1:n.*543A>C
ENST00000683887.1:c.859A>C	ENSP00000506886.1:p.Thr287Pro
ENST00000684100.1:n.805A>C
ENST00000684126.1:n.945A>C
ENST00000684688.1:n.1436A>C
ENST00000204679.9:c.811A>C MANE Select	ENSP00000204679.4:p.Thr271Pro
ENST00000204679.8:c.811A>C	ENSP00000204679.4:p.Thr271Pro
ENST00000527076.1:n.2034A>C
ENST00000527168.5:n.978A>C
ENST00000529957.5:n.910A>C
NM_032520.4:c.811A>C	NP_115909.1:p.Thr271Pro
XM_017023782.1:c.859A>C	XP_016879271.1:p.Thr287Pro
XM_017023783.1:c.451A>C	XP_016879272.1:p.Thr151Pro
NM_032520.5:c.811A>C MANE Select	NP_115909.1:p.Thr271Pro