Canonical Allele Identifier: CA340609324

Gene: DOCK7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62489043T>G , CM000663.2:g.62489043T>G	GRCh38
NC_000001.10:g.62954714T>G , CM000663.1:g.62954714T>G	GRCh37
NC_000001.9:g.62727302T>G	NCBI36
NG_033073.1:g.204326A>C
NG_033073.2:g.204326A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635253.2:c.5384A>C MANE Select	ENSP00000489124.1:p.Asn1795Thr
ENST00000635983.1:n.1794A>C
ENST00000637208.1:c.*3477A>C	ENSP00000490079.1:n.*3477A>C
ENST00000637255.1:c.2657A>C	ENSP00000490888.1:p.Asn886Thr
ENST00000251157.10:c.5357A>C	ENSP00000251157.6:p.Asn1786Thr
ENST00000340370.10:c.5291A>C	ENSP00000340742.5:p.Asn1764Thr
ENST00000454575.6:c.5357A>C	ENSP00000413583.2:p.Asn1786Thr
ENST00000634264.1:c.5264A>C	ENSP00000489284.1:p.Asn1755Thr
ENST00000635088.1:c.80A>C	ENSP00000489412.1:p.Asn27Thr
ENST00000635123.1:c.5264A>C	ENSP00000489499.1:p.Asn1755Thr
ENST00000635253.1:c.5384A>C	ENSP00000489124.1:p.Asn1795Thr
NM_001271999.1:c.5357A>C	NP_001258928.1:p.Asn1786Thr
NM_001272000.1:c.5264A>C	NP_001258929.1:p.Asn1755Thr
NM_001272001.1:c.5264A>C	NP_001258930.1:p.Asn1755Thr
NM_033407.3:c.5291A>C	NP_212132.2:p.Asn1764Thr
XM_005271292.1:c.5357A>C	XP_005271349.1:p.Asn1786Thr
XM_011542326.1:c.5384A>C	XP_011540628.1:p.Asn1795Thr
XM_011542327.1:c.5384A>C	XP_011540629.1:p.Asn1795Thr
XM_011542328.1:c.5384A>C	XP_011540630.1:p.Asn1795Thr
XM_011542329.1:c.5384A>C	XP_011540631.1:p.Asn1795Thr
XM_011542330.1:c.5384A>C	XP_011540632.1:p.Asn1795Thr
NM_001330614.1:c.5357A>C	NP_001317543.1:p.Asn1786Thr
XM_011542326.2:c.5384A>C	XP_011540628.1:p.Asn1795Thr
XM_011542327.2:c.5384A>C	XP_011540629.1:p.Asn1795Thr
XM_011542328.2:c.5384A>C	XP_011540630.1:p.Asn1795Thr
XM_011542330.2:c.5384A>C	XP_011540632.1:p.Asn1795Thr
XM_017002639.1:c.5291A>C	XP_016858128.1:p.Asn1764Thr
XM_017002640.1:c.5384A>C	XP_016858129.1:p.Asn1795Thr
NM_001367561.1:c.5384A>C MANE Select	NP_001354490.1:p.Asn1795Thr
NM_001271999.2:c.5357A>C	NP_001258928.1:p.Asn1786Thr
NM_001272000.2:c.5264A>C	NP_001258929.1:p.Asn1755Thr
NM_001272001.2:c.5264A>C	NP_001258930.1:p.Asn1755Thr
NM_001330614.2:c.5357A>C	NP_001317543.1:p.Asn1786Thr
NM_033407.4:c.5291A>C	NP_212132.2:p.Asn1764Thr