Canonical Allele Identifier: CA340600357

Gene: ANGPTL3 DOCK7

Linked Data

• dbSNP Id: rs1256835312
• gnomAD v2: 1-63063451-T-C
• gnomAD v4: 1-62597780-T-C
• MyVariant Identifiers: chr1:g.63063451T>C (hg19) ; chr1:g.62597780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62597780T>C , CM000663.2:g.62597780T>C	GRCh38
NC_000001.10:g.63063451T>C , CM000663.1:g.63063451T>C	GRCh37
NC_000001.9:g.62836039T>C	NCBI36
NG_028169.1:g.5265T>C
NG_033073.1:g.95589A>G
NG_033073.2:g.95589A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371129.4:c.214T>C (ANGPTL3) MANE Select	ENSP00000360170.3:p.Phe72Leu
ENST00000614472.5:c.1389-11156A>G (DOCK7)	ENSP00000483062.2:n.1389-11156A>G
ENST00000635253.2:c.1683-11156A>G (DOCK7) MANE Select	ENSP00000489124.1:n.1683-11156A>G
ENST00000637208.1:c.1683-11156A>G (DOCK7)	ENSP00000490079.1:n.1683-11156A>G
ENST00000637227.1:n.82-239A>G (DOCK7)
ENST00000251157.10:c.1683-11156A>G (DOCK7)	ENSP00000251157.6:n.1683-11156A>G
ENST00000340370.10:c.1683-11156A>G (DOCK7)	ENSP00000340742.5:n.1683-11156A>G
ENST00000371129.3:c.214T>C (ANGPTL3)	ENSP00000360170.3:p.Phe72Leu
ENST00000404627.3:c.1683-11156A>G (DOCK7)	ENSP00000384446.2:n.1683-11156A>G
ENST00000454575.6:c.1683-11156A>G (DOCK7)	ENSP00000413583.2:n.1683-11156A>G
ENST00000614472.4:c.1359-11156A>G (DOCK7)	ENSP00000483062.1:n.1359-11156A>G
ENST00000634223.1:c.13-11156A>G (DOCK7)
ENST00000634264.1:c.1683-11156A>G (DOCK7)	ENSP00000489284.1:n.1683-11156A>G
ENST00000635123.1:c.1683-11156A>G (DOCK7)	ENSP00000489499.1:n.1683-11156A>G
ENST00000635253.1:c.1683-11156A>G (DOCK7)	ENSP00000489124.1:n.1683-11156A>G
NM_001271999.1:c.1683-11156A>G (DOCK7)	NP_001258928.1:n.1683-11156A>G
NM_001272000.1:c.1683-11156A>G (DOCK7)	NP_001258929.1:n.1683-11156A>G
NM_001272001.1:c.1683-11156A>G (DOCK7)	NP_001258930.1:n.1683-11156A>G
NM_001272002.1:c.1683-11156A>G (DOCK7)	NP_001258931.1:n.1683-11156A>G
NM_014495.3:c.214T>C (ANGPTL3)	NP_055310.1:p.Phe72Leu
NM_033407.3:c.1683-11156A>G (DOCK7)	NP_212132.2:n.1683-11156A>G
XM_005271292.1:c.1683-11156A>G (DOCK7)	XP_005271349.1:n.1683-11156A>G
XM_011542326.1:c.1683-11156A>G (DOCK7)	XP_011540628.1:n.1683-11156A>G
XM_011542327.1:c.1683-11156A>G (DOCK7)	XP_011540629.1:n.1683-11156A>G
XM_011542328.1:c.1683-11156A>G (DOCK7)	XP_011540630.1:n.1683-11156A>G
XM_011542329.1:c.1683-11156A>G (DOCK7)	XP_011540631.1:n.1683-11156A>G
XM_011542330.1:c.1683-11156A>G (DOCK7)	XP_011540632.1:n.1683-11156A>G
NM_001330614.1:c.1683-11156A>G (DOCK7)	NP_001317543.1:n.1683-11156A>G
XM_011542326.2:c.1683-11156A>G (DOCK7)	XP_011540628.1:n.1683-11156A>G
XM_011542327.2:c.1683-11156A>G (DOCK7)	XP_011540629.1:n.1683-11156A>G
XM_011542328.2:c.1683-11156A>G (DOCK7)	XP_011540630.1:n.1683-11156A>G
XM_011542330.2:c.1683-11156A>G (DOCK7)	XP_011540632.1:n.1683-11156A>G
XM_017002639.1:c.1683-11156A>G (DOCK7)	XP_016858128.1:n.1683-11156A>G
XM_017002640.1:c.1683-11156A>G (DOCK7)	XP_016858129.1:n.1683-11156A>G
NM_001367561.1:c.1683-11156A>G (DOCK7) MANE Select	NP_001354490.1:n.1683-11156A>G
NM_001272002.2:c.1683-11156A>G (DOCK7)	NP_001258931.1:n.1683-11156A>G
NM_014495.4:c.214T>C (ANGPTL3) MANE Select	NP_055310.1:p.Phe72Leu
NM_001271999.2:c.1683-11156A>G (DOCK7)	NP_001258928.1:n.1683-11156A>G
NM_001272000.2:c.1683-11156A>G (DOCK7)	NP_001258929.1:n.1683-11156A>G
NM_001272001.2:c.1683-11156A>G (DOCK7)	NP_001258930.1:n.1683-11156A>G
NM_001330614.2:c.1683-11156A>G (DOCK7)	NP_001317543.1:n.1683-11156A>G
NM_033407.4:c.1683-11156A>G (DOCK7)	NP_212132.2:n.1683-11156A>G