Canonical Allele Identifier: CA394188647

Gene: GNPTG

Linked Data

• dbSNP Id: rs1451538466
• gnomAD v3: 16-1362740-A-C
• gnomAD v4: 16-1362740-A-C
• MyVariant Identifiers: chr16:g.1412741A>C (hg19) ; chr16:g.1362740A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362740A>C , CM000678.2:g.1362740A>C	GRCh38
NC_000016.9:g.1412741A>C , CM000678.1:g.1412741A>C	GRCh37
NC_000016.8:g.1352742A>C	NCBI36
NG_016985.1:g.15842A>C
NG_033129.1:g.56965T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.838A>C
ENST00000529110.2:c.823A>C	ENSP00000435349.2:p.Lys275Gln
ENST00000529957.6:n.797A>C
ENST00000683366.1:c.*471A>C	ENSP00000507283.1:n.*471A>C
ENST00000683887.1:c.787A>C	ENSP00000506886.1:p.Lys263Gln
ENST00000684100.1:n.733A>C
ENST00000684126.1:n.873A>C
ENST00000684688.1:n.1364A>C
ENST00000204679.9:c.739A>C MANE Select	ENSP00000204679.4:p.Lys247Gln
ENST00000204679.8:c.739A>C	ENSP00000204679.4:p.Lys247Gln
ENST00000527076.1:n.1962A>C
ENST00000527168.5:n.906A>C
ENST00000529957.5:n.838A>C
NM_032520.4:c.739A>C	NP_115909.1:p.Lys247Gln
XM_017023782.1:c.787A>C	XP_016879271.1:p.Lys263Gln
XM_017023783.1:c.379A>C	XP_016879272.1:p.Lys127Gln
NM_032520.5:c.739A>C MANE Select	NP_115909.1:p.Lys247Gln