Canonical Allele Identifier: CA7807736

Gene: GNPTG

Linked Data

• dbSNP Id: rs758472393
• ExAC: 16:1412291 C / T
• gnomAD v2: 16-1412291-C-T
• MyVariant Identifiers: chr16:g.1412291C>T (hg19) ; chr16:g.1362290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362290C>T , CM000678.2:g.1362290C>T	GRCh38
NC_000016.9:g.1412291C>T , CM000678.1:g.1412291C>T	GRCh37
NC_000016.8:g.1352292C>T	NCBI36
NG_016985.1:g.15392C>T
NG_033129.1:g.57415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.595C>T
ENST00000529110.2:c.580C>T	ENSP00000435349.2:p.Pro194Ser
ENST00000529957.6:n.554C>T
ENST00000683366.1:c.*228C>T	ENSP00000507283.1:n.*228C>T
ENST00000683887.1:c.544C>T	ENSP00000506886.1:p.Pro182Ser
ENST00000684100.1:n.490C>T
ENST00000684126.1:n.554C>T
ENST00000684688.1:n.1121C>T
ENST00000204679.9:c.496C>T MANE Select	ENSP00000204679.4:p.Pro166Ser
ENST00000204679.8:c.496C>T	ENSP00000204679.4:p.Pro166Ser
ENST00000527076.1:n.1512C>T
ENST00000527168.5:n.532C>T
ENST00000529957.5:n.595C>T
NM_032520.4:c.496C>T	NP_115909.1:p.Pro166Ser
XM_017023782.1:c.544C>T	XP_016879271.1:p.Pro182Ser
XM_017023783.1:c.136C>T	XP_016879272.1:p.Pro46Ser
NM_032520.5:c.496C>T MANE Select	NP_115909.1:p.Pro166Ser