Canonical Allele Identifier: CA8702062

Gene: TACO1

Linked Data

• ClinVar Variation Id: 324443
• ClinVar RCV Id: RCV000270979
• dbSNP Id: rs534248303
• ExAC: 17:61678703 C / T
• gnomAD v2: 17-61678703-C-T
• gnomAD v3: 17-63601344-C-T
• gnomAD v4: 17-63601344-C-T
• MyVariant Identifiers: chr17:g.61678703C>T (hg19) ; chr17:g.63601344C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63601344C>T , CM000679.2:g.63601344C>T	GRCh38
NC_000017.10:g.61678703C>T , CM000679.1:g.61678703C>T	GRCh37
NC_000017.9:g.59032435C>T	NCBI36
NG_016979.1:g.5473C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684587.1:c.261C>T	ENSP00000507435.1:p.Asn87=
ENST00000690765.1:c.*107-3190C>T	ENSP00000510085.1:n.*107-3190C>T
ENST00000258975.7:c.261C>T MANE Select	ENSP00000258975.6:p.Asn87=
ENST00000258975.6:c.261C>T	ENSP00000258975.6:p.Asn87=
ENST00000581120.1:n.463C>T
NM_016360.3:c.261C>T	NP_057444.2:p.Asn87=
NM_016360.4:c.261C>T MANE Select	NP_057444.2:p.Asn87=