Canonical Allele Identifier: CA7807712

Gene: GNPTG

Linked Data

• dbSNP Id: rs753679575
• ExAC: 16:1412255 C / T
• gnomAD v2: 16-1412255-C-T
• gnomAD v4: 16-1362254-C-T
• MyVariant Identifiers: chr16:g.1412255C>T (hg19) ; chr16:g.1362254C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362254C>T , CM000678.2:g.1362254C>T	GRCh38
NC_000016.9:g.1412255C>T , CM000678.1:g.1412255C>T	GRCh37
NC_000016.8:g.1352256C>T	NCBI36
NG_016985.1:g.15356C>T
NG_033129.1:g.57451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.559C>T
ENST00000529110.2:c.544C>T	ENSP00000435349.2:p.Pro182Ser
ENST00000529957.6:n.518C>T
ENST00000683366.1:c.*192C>T	ENSP00000507283.1:n.*192C>T
ENST00000683887.1:c.508C>T	ENSP00000506886.1:p.Pro170Ser
ENST00000684100.1:n.454C>T
ENST00000684126.1:n.518C>T
ENST00000684688.1:n.1085C>T
ENST00000204679.9:c.460C>T MANE Select	ENSP00000204679.4:p.Pro154Ser
ENST00000204679.8:c.460C>T	ENSP00000204679.4:p.Pro154Ser
ENST00000527076.1:n.1476C>T
ENST00000527168.5:n.496C>T
ENST00000529110.1:c.527C>T
ENST00000529957.5:n.559C>T
NM_032520.4:c.460C>T	NP_115909.1:p.Pro154Ser
XM_017023782.1:c.508C>T	XP_016879271.1:p.Pro170Ser
XM_017023783.1:c.100C>T	XP_016879272.1:p.Pro34Ser
NM_032520.5:c.460C>T MANE Select	NP_115909.1:p.Pro154Ser