Canonical Allele Identifier: CA7807575

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 522350
• ClinVar RCV Id: RCV000625460 ; RCV000880814 ; RCV001701136
• dbSNP Id: rs145313679
• ExAC: 16:1411903 C / T
• gnomAD v2: 16-1411903-C-T
• gnomAD v3: 16-1361902-C-T
• gnomAD v4: 16-1361902-C-T
• MyVariant Identifiers: chr16:g.1411903C>T (hg19) ; chr16:g.1361902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361902C>T , CM000678.2:g.1361902C>T	GRCh38
NC_000016.9:g.1411903C>T , CM000678.1:g.1411903C>T	GRCh37
NC_000016.8:g.1351904C>T	NCBI36
NG_016985.1:g.15004C>T
NG_033129.1:g.57803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.363C>T
ENST00000529110.2:c.348C>T	ENSP00000435349.2:p.Asn116=
ENST00000529957.6:n.322C>T
ENST00000683366.1:c.209C>T	ENSP00000507283.1:p.Thr70Met
ENST00000683887.1:c.312C>T	ENSP00000506886.1:p.Asn104=
ENST00000684100.1:n.258C>T
ENST00000684126.1:n.322C>T
ENST00000684688.1:n.889C>T
ENST00000204679.9:c.264C>T MANE Select	ENSP00000204679.4:p.Asn88=
ENST00000204679.8:c.264C>T	ENSP00000204679.4:p.Asn88=
ENST00000526820.5:c.*166C>T	ENSP00000434413.1:n.*166C>T
ENST00000527076.1:n.1280C>T
ENST00000527168.5:n.300C>T
ENST00000529110.1:c.331C>T
ENST00000529957.5:n.363C>T
NM_032520.4:c.264C>T	NP_115909.1:p.Asn88=
XM_017023782.1:c.312C>T	XP_016879271.1:p.Asn104=
XM_017023783.1:c.-97C>T	XP_016879272.1:n.-97C>T
NM_032520.5:c.264C>T MANE Select	NP_115909.1:p.Asn88=