Canonical Allele Identifier: CA394188806

Gene: GNPTG

Linked Data

• dbSNP Id: rs374442826
• gnomAD v3: 16-1362895-C-T
• gnomAD v4: 16-1362895-C-T
• MyVariant Identifiers: chr16:g.1412896C>T (hg19) ; chr16:g.1362895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362895C>T , CM000678.2:g.1362895C>T	GRCh38
NC_000016.9:g.1412896C>T , CM000678.1:g.1412896C>T	GRCh37
NC_000016.8:g.1352897C>T	NCBI36
NG_016985.1:g.15997C>T
NG_033129.1:g.56810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.911C>T
ENST00000529110.2:c.896C>T	ENSP00000435349.2:p.Thr299Met
ENST00000529957.6:n.870C>T
ENST00000683366.1:c.*544C>T	ENSP00000507283.1:n.*544C>T
ENST00000683887.1:c.860C>T	ENSP00000506886.1:p.Thr287Met
ENST00000684100.1:n.806C>T
ENST00000684126.1:n.946C>T
ENST00000684688.1:n.1437C>T
ENST00000204679.9:c.812C>T MANE Select	ENSP00000204679.4:p.Thr271Met
ENST00000204679.8:c.812C>T	ENSP00000204679.4:p.Thr271Met
ENST00000527076.1:n.2035C>T
ENST00000527168.5:n.979C>T
ENST00000529957.5:n.911C>T
NM_032520.4:c.812C>T	NP_115909.1:p.Thr271Met
XM_017023782.1:c.860C>T	XP_016879271.1:p.Thr287Met
XM_017023783.1:c.452C>T	XP_016879272.1:p.Thr151Met
NM_032520.5:c.812C>T MANE Select	NP_115909.1:p.Thr271Met