Canonical Allele Identifier: CA404105252

Gene: DOCK6 ANGPTL8

Linked Data

• ClinVar Variation Id: 2245604
• ClinVar RCV Id: RCV004106252
• dbSNP Id: rs1329319448
• gnomAD v4: 19-11239801-C-T
• MyVariant Identifiers: chr19:g.11350477C>T (hg19) ; chr19:g.11239801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11239801C>T , CM000681.2:g.11239801C>T	GRCh38
NC_000019.9:g.11350477C>T , CM000681.1:g.11350477C>T	GRCh37
NC_000019.8:g.11211477C>T	NCBI36
NG_031953.1:g.27692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587656.6:c.1644-1497G>A (DOCK6)	ENSP00000468638.2:n.1644-1497G>A
ENST00000294618.12:c.1644-1497G>A (DOCK6) MANE Select	ENSP00000294618.6:n.1644-1497G>A
ENST00000252453.12:c.164C>T (ANGPTL8) MANE Select	ENSP00000252453.7:p.Thr55Ile
ENST00000294618.11:c.1644-1497G>A (DOCK6)	ENSP00000294618.6:n.1644-1497G>A
ENST00000591200.5:c.1-334C>T (ANGPTL8)	ENSP00000464941.1:n.1-334C>T
ENST00000616433.4:c.164C>T (ANGPTL8)	ENSP00000479969.1:p.Thr55Ile
NM_018687.6:c.164C>T (ANGPTL8)	NP_061157.3:p.Thr55Ile
NM_020812.3:c.1644-1497G>A (DOCK6)	NP_065863.2:n.1644-1497G>A
XM_005260000.2:c.1644-1497G>A (DOCK6)	XP_005260057.1:n.1644-1497G>A
XM_005260001.2:c.1644-1497G>A (DOCK6)	XP_005260058.1:n.1644-1497G>A
XM_011528150.1:c.1677-1497G>A (DOCK6)	XP_011526452.1:n.1677-1497G>A
XM_011528151.1:c.1677-1497G>A (DOCK6)	XP_011526453.1:n.1677-1497G>A
XM_011528152.1:c.1677-1497G>A (DOCK6)	XP_011526454.1:n.1677-1497G>A
XM_011528153.1:c.1677-1497G>A (DOCK6)	XP_011526455.1:n.1677-1497G>A
XR_936195.1:n.1738-1497G>A (DOCK6)
XR_936196.1:n.1738-1497G>A (DOCK6)
XR_936197.1:n.1738-1497G>A (DOCK6)
XR_936198.1:n.1738-1497G>A (DOCK6)
NM_001367830.1:c.1644-1497G>A (DOCK6)	NP_001354759.1:n.1644-1497G>A
NM_018687.7:c.164C>T (ANGPTL8) MANE Select	NP_061157.3:p.Thr55Ile
NM_020812.4:c.1644-1497G>A (DOCK6) MANE Select	NP_065863.2:n.1644-1497G>A