Canonical Allele Identifier: CA5742096

Gene: DOCK1

Linked Data

• dbSNP Id: rs2275540
• ExAC: 10:128797717 T / C
• gnomAD v2: 10-128797717-T-C
• gnomAD v3: 10-126999453-T-C
• gnomAD v4: 10-126999453-T-C
• MyVariant Identifiers: chr10:g.128797717T>C (hg19) ; chr10:g.126999453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.126999453T>C , CM000672.2:g.126999453T>C	GRCh38
NC_000010.10:g.128797717T>C , CM000672.1:g.128797717T>C	GRCh37
NC_000010.9:g.128687707T>C	NCBI36
NG_033919.1:g.99000T>C
NG_033919.2:g.99000T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000623213.2:c.849+18T>C MANE Select	ENSP00000485033.1:n.849+18T>C
ENST00000280333.9:c.849+18T>C	ENSP00000280333.6:n.849+18T>C
ENST00000623213.1:c.849+18T>C	ENSP00000485033.1:n.849+18T>C
NM_001290223.1:c.849+18T>C	NP_001277152.1:n.849+18T>C
NM_001380.4:c.849+18T>C	NP_001371.1:n.849+18T>C
XM_011539421.1:c.966+18T>C	XP_011537723.1:n.966+18T>C
XM_011539422.1:c.915+18T>C	XP_011537724.1:n.915+18T>C
XM_011539423.1:c.966+18T>C	XP_011537725.1:n.966+18T>C
XM_011539424.1:c.831+18T>C	XP_011537726.1:n.831+18T>C
XM_011539425.1:c.966+18T>C	XP_011537727.1:n.966+18T>C
XM_011539426.1:c.966+18T>C	XP_011537728.1:n.966+18T>C
XM_011539422.3:c.915+18T>C	XP_011537724.1:n.915+18T>C
XM_017015813.2:c.915+18T>C	XP_016871302.1:n.915+18T>C
XM_017015814.1:c.915+18T>C	XP_016871303.1:n.915+18T>C
XM_017015815.1:c.849+18T>C	XP_016871304.1:n.849+18T>C
XM_017015817.1:c.915+18T>C	XP_016871306.1:n.915+18T>C
NM_001290223.2:c.849+18T>C MANE Select	NP_001277152.2:n.849+18T>C
NM_001377543.1:c.849+18T>C	NP_001364472.1:n.849+18T>C
NM_001377544.1:c.885+18T>C	NP_001364473.1:n.885+18T>C
NM_001377546.1:c.849+18T>C	NP_001364475.1:n.849+18T>C
NM_001377547.1:c.849+18T>C	NP_001364476.1:n.849+18T>C
NM_001377548.1:c.765+18T>C	NP_001364477.1:n.765+18T>C
NM_001377550.1:c.849+18T>C	NP_001364479.1:n.849+18T>C
NM_001377553.1:c.849+18T>C	NP_001364482.1:n.849+18T>C
NM_001377554.1:c.849+18T>C	NP_001364483.1:n.849+18T>C
NM_001377556.1:c.849+18T>C	NP_001364485.1:n.849+18T>C
NM_001377558.1:c.849+18T>C	NP_001364487.1:n.849+18T>C
NM_001377560.1:c.131-9279T>C	NP_001364489.1:n.131-9279T>C
NM_001377561.1:c.849+18T>C	NP_001364490.1:n.849+18T>C
NM_001380.5:c.849+18T>C	NP_001371.2:n.849+18T>C