Canonical Allele Identifier: CA394188717

Gene: GNPTG

Linked Data

• dbSNP Id: rs1440234416
• gnomAD v3: 16-1362850-T-C
• gnomAD v4: 16-1362850-T-C
• MyVariant Identifiers: chr16:g.1412851T>C (hg19) ; chr16:g.1362850T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362850T>C , CM000678.2:g.1362850T>C	GRCh38
NC_000016.9:g.1412851T>C , CM000678.1:g.1412851T>C	GRCh37
NC_000016.8:g.1352852T>C	NCBI36
NG_016985.1:g.15952T>C
NG_033129.1:g.56855A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.866T>C
ENST00000529110.2:c.851T>C	ENSP00000435349.2:p.Ile284Thr
ENST00000529957.6:n.825T>C
ENST00000683366.1:c.*499T>C	ENSP00000507283.1:n.*499T>C
ENST00000683887.1:c.815T>C	ENSP00000506886.1:p.Ile272Thr
ENST00000684100.1:n.761T>C
ENST00000684126.1:n.901T>C
ENST00000684688.1:n.1392T>C
ENST00000204679.9:c.767T>C MANE Select	ENSP00000204679.4:p.Ile256Thr
ENST00000204679.8:c.767T>C	ENSP00000204679.4:p.Ile256Thr
ENST00000527076.1:n.1990T>C
ENST00000527168.5:n.934T>C
ENST00000529957.5:n.866T>C
NM_032520.4:c.767T>C	NP_115909.1:p.Ile256Thr
XM_017023782.1:c.815T>C	XP_016879271.1:p.Ile272Thr
XM_017023783.1:c.407T>C	XP_016879272.1:p.Ile136Thr
NM_032520.5:c.767T>C MANE Select	NP_115909.1:p.Ile256Thr