Canonical Allele Identifier: CA6255172

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103303136A>G , CM000673.2:g.103303136A>G	GRCh38
NC_000011.9:g.103173865A>G , CM000673.1:g.103173865A>G	GRCh37
NC_000011.8:g.102679075A>G	NCBI36
NG_016423.1:g.198706A>G
NG_016423.2:g.198706A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.11139A>G MANE Select	NP_001368.2:p.Leu3713=
ENST00000375735.7:c.11139A>G MANE Select	ENSP00000364887.2:p.Leu3713=
NM_001080463.2:c.11160A>G MANE Plus Clinical	NP_001073932.1:p.Leu3720=
ENST00000650373.2:c.11160A>G MANE Plus Clinical	ENSP00000497174.1:p.Leu3720=
NM_001080463.1:c.11160A>G	NP_001073932.1:p.Leu3720=
NM_001377.2:c.11139A>G	NP_001368.2:p.Leu3713=
ENST00000334267.11:c.2206-132807A>G	ENSP00000334021.7:n.2206-132807A>G
ENST00000375735.6:c.11139A>G	ENSP00000364887.2:p.Leu3713=
ENST00000398093.7:c.11160A>G	ENSP00000381167.3:p.Leu3720=
ENST00000528670.5:c.318A>G	ENSP00000433451.1:p.Leu106=
ENST00000650373.1:c.11160A>G	ENSP00000497174.1:p.Leu3720=
XM_006718903.2:c.11118A>G	XP_006718966.1:p.Leu3706=
XM_017018291.1:c.11139A>G	XP_016873780.1:p.Leu3713=
XM_017018292.1:c.10521A>G	XP_016873781.1:p.Leu3507=