Canonical Allele Identifier: CA620700185

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2098843
• ClinVar RCV Id: RCV003031143
• dbSNP Id: rs1439408621
• gnomAD v2: 16-1412202-C-T
• gnomAD v4: 16-1362201-C-T
• MyVariant Identifiers: chr16:g.1412202C>T (hg19) ; chr16:g.1362201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362201C>T , CM000678.2:g.1362201C>T	GRCh38
NC_000016.9:g.1412202C>T , CM000678.1:g.1412202C>T	GRCh37
NC_000016.8:g.1352203C>T	NCBI36
NG_016985.1:g.15303C>T
NG_033129.1:g.57504G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-5C>T
ENST00000529110.2:c.496-5C>T	ENSP00000435349.2:n.496-5C>T
ENST00000529957.6:n.470-5C>T
ENST00000683366.1:c.*144-5C>T	ENSP00000507283.1:n.*144-5C>T
ENST00000683887.1:c.460-5C>T	ENSP00000506886.1:n.460-5C>T
ENST00000684100.1:n.406-5C>T
ENST00000684126.1:n.470-5C>T
ENST00000684688.1:n.1037-5C>T
ENST00000204679.9:c.412-5C>T MANE Select	ENSP00000204679.4:n.412-5C>T
ENST00000204679.8:c.412-5C>T	ENSP00000204679.4:n.412-5C>T
ENST00000527076.1:n.1428-5C>T
ENST00000527168.5:n.448-5C>T
ENST00000529110.1:c.479-5C>T
ENST00000529957.5:n.511-5C>T
NM_032520.4:c.412-5C>T	NP_115909.1:n.412-5C>T
XM_017023782.1:c.460-5C>T	XP_016879271.1:n.460-5C>T
XM_017023783.1:c.52-5C>T	XP_016879272.1:n.52-5C>T
NM_032520.5:c.412-5C>T MANE Select	NP_115909.1:n.412-5C>T