Canonical Allele Identifier: CA620700176

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1139982
• ClinVar RCV Id: RCV001476880
• dbSNP Id: rs1443920292
• gnomAD v2: 16-1412189-C-T
• gnomAD v3: 16-1362188-C-T
• gnomAD v4: 16-1362188-C-T
• MyVariant Identifiers: chr16:g.1412189C>T (hg19) ; chr16:g.1362188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362188C>T , CM000678.2:g.1362188C>T	GRCh38
NC_000016.9:g.1412189C>T , CM000678.1:g.1412189C>T	GRCh37
NC_000016.8:g.1352190C>T	NCBI36
NG_016985.1:g.15290C>T
NG_033129.1:g.57517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-18C>T
ENST00000529110.2:c.496-18C>T	ENSP00000435349.2:n.496-18C>T
ENST00000529957.6:n.470-18C>T
ENST00000683366.1:c.*144-18C>T	ENSP00000507283.1:n.*144-18C>T
ENST00000683887.1:c.460-18C>T	ENSP00000506886.1:n.460-18C>T
ENST00000684100.1:n.406-18C>T
ENST00000684126.1:n.470-18C>T
ENST00000684688.1:n.1037-18C>T
ENST00000204679.9:c.412-18C>T MANE Select	ENSP00000204679.4:n.412-18C>T
ENST00000204679.8:c.412-18C>T	ENSP00000204679.4:n.412-18C>T
ENST00000527076.1:n.1428-18C>T
ENST00000527168.5:n.448-18C>T
ENST00000529110.1:c.479-18C>T
ENST00000529957.5:n.511-18C>T
NM_032520.4:c.412-18C>T	NP_115909.1:n.412-18C>T
XM_017023782.1:c.460-18C>T	XP_016879271.1:n.460-18C>T
XM_017023783.1:c.52-18C>T	XP_016879272.1:n.52-18C>T
NM_032520.5:c.412-18C>T MANE Select	NP_115909.1:n.412-18C>T