Canonical Allele Identifier: CA378701213

Gene: DOCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.127403078G>C , CM000672.2:g.127403078G>C	GRCh38
NC_000010.10:g.129201342G>C , CM000672.1:g.129201342G>C	GRCh37
NC_000010.9:g.129091332G>C	NCBI36
NG_033919.1:g.502625G>C
NG_033919.2:g.502625G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001290223.2:c.3951G>C MANE Select	NP_001277152.2:p.Leu1317Phe
ENST00000623213.2:c.3951G>C MANE Select	ENSP00000485033.1:p.Leu1317Phe
NM_001290223.1:c.3951G>C	NP_001277152.1:p.Leu1317Phe
NM_001377543.1:c.3888G>C	NP_001364472.1:p.Leu1296Phe
NM_001377544.1:c.3924G>C	NP_001364473.1:p.Leu1308Phe
NM_001377546.1:c.3831G>C	NP_001364475.1:p.Leu1277Phe
NM_001377547.1:c.3825G>C	NP_001364476.1:p.Leu1275Phe
NM_001377548.1:c.3804G>C	NP_001364477.1:p.Leu1268Phe
NM_001377550.1:c.3789G>C	NP_001364479.1:p.Leu1263Phe
NM_001377553.1:c.3768G>C	NP_001364482.1:p.Leu1256Phe
NM_001377554.1:c.3735G>C	NP_001364483.1:p.Leu1245Phe
NM_001377556.1:c.3865-5959G>C	NP_001364485.1:n.3865-5959G>C
NM_001377558.1:c.3681G>C	NP_001364487.1:p.Leu1227Phe
NM_001377560.1:c.3096G>C	NP_001364489.1:p.Leu1032Phe
NM_001380.4:c.3888G>C	NP_001371.1:p.Leu1296Phe
NM_001380.5:c.3888G>C	NP_001371.2:p.Leu1296Phe
ENST00000280333.9:c.3888G>C	ENSP00000280333.6:p.Leu1296Phe
ENST00000623213.1:c.3951G>C	ENSP00000485033.1:p.Leu1317Phe
XM_011539421.1:c.4068G>C	XP_011537723.1:p.Leu1356Phe
XM_011539422.1:c.4017G>C	XP_011537724.1:p.Leu1339Phe
XM_011539422.3:c.4017G>C	XP_011537724.1:p.Leu1339Phe
XM_011539423.1:c.4005G>C	XP_011537725.1:p.Leu1335Phe
XM_011539424.1:c.3933G>C	XP_011537726.1:p.Leu1311Phe
XM_017015813.2:c.3954G>C	XP_016871302.1:p.Leu1318Phe
XM_024447859.1:c.1431G>C	XP_024303627.1:p.Leu477Phe