Canonical Allele Identifier: CA394188815

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362900-C-T
• MyVariant Identifiers: chr16:g.1412901C>T (hg19) ; chr16:g.1362900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362900C>T , CM000678.2:g.1362900C>T	GRCh38
NC_000016.9:g.1412901C>T , CM000678.1:g.1412901C>T	GRCh37
NC_000016.8:g.1352902C>T	NCBI36
NG_016985.1:g.16002C>T
NG_033129.1:g.56805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.916C>T
ENST00000529110.2:c.901C>T	ENSP00000435349.2:p.Pro301Ser
ENST00000529957.6:n.875C>T
ENST00000683366.1:c.*549C>T	ENSP00000507283.1:n.*549C>T
ENST00000683887.1:c.865C>T	ENSP00000506886.1:p.Pro289Ser
ENST00000684100.1:n.811C>T
ENST00000684126.1:n.951C>T
ENST00000684688.1:n.1442C>T
ENST00000204679.9:c.817C>T MANE Select	ENSP00000204679.4:p.Pro273Ser
ENST00000204679.8:c.817C>T	ENSP00000204679.4:p.Pro273Ser
ENST00000527076.1:n.2040C>T
ENST00000527168.5:n.984C>T
ENST00000529957.5:n.916C>T
NM_032520.4:c.817C>T	NP_115909.1:p.Pro273Ser
XM_017023782.1:c.865C>T	XP_016879271.1:p.Pro289Ser
XM_017023783.1:c.457C>T	XP_016879272.1:p.Pro153Ser
NM_032520.5:c.817C>T MANE Select	NP_115909.1:p.Pro273Ser