Canonical Allele Identifier: CA7807591

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 886091
• ClinVar RCV Id: RCV001118079 ; RCV001427064
• dbSNP Id: rs201045559
• ExAC: 16:1411936 C / T
• gnomAD v2: 16-1411936-C-T
• gnomAD v3: 16-1361935-C-T
• gnomAD v4: 16-1361935-C-T
• MyVariant Identifiers: chr16:g.1411936C>T (hg19) ; chr16:g.1361935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361935C>T , CM000678.2:g.1361935C>T	GRCh38
NC_000016.9:g.1411936C>T , CM000678.1:g.1411936C>T	GRCh37
NC_000016.8:g.1351937C>T	NCBI36
NG_016985.1:g.15037C>T
NG_033129.1:g.57770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.396C>T
ENST00000529110.2:c.381C>T	ENSP00000435349.2:p.Asn127=
ENST00000529957.6:n.355C>T
ENST00000683366.1:c.*29C>T	ENSP00000507283.1:n.*29C>T
ENST00000683887.1:c.345C>T	ENSP00000506886.1:p.Asn115=
ENST00000684100.1:n.291C>T
ENST00000684126.1:n.355C>T
ENST00000684688.1:n.922C>T
ENST00000204679.9:c.297C>T MANE Select	ENSP00000204679.4:p.Asn99=
ENST00000204679.8:c.297C>T	ENSP00000204679.4:p.Asn99=
ENST00000526820.5:c.*199C>T	ENSP00000434413.1:n.*199C>T
ENST00000527076.1:n.1313C>T
ENST00000527168.5:n.333C>T
ENST00000529110.1:c.364C>T
ENST00000529957.5:n.396C>T
NM_032520.4:c.297C>T	NP_115909.1:p.Asn99=
XM_017023782.1:c.345C>T	XP_016879271.1:p.Asn115=
XM_017023783.1:c.-64C>T	XP_016879272.1:n.-64C>T
NM_032520.5:c.297C>T MANE Select	NP_115909.1:p.Asn99=