Canonical Allele Identifier: CA382289961

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103468635T>G , CM000673.2:g.103468635T>G	GRCh38
NC_000011.9:g.103339363T>G , CM000673.1:g.103339363T>G	GRCh37
NC_000011.8:g.102844573T>G	NCBI36
NG_016423.1:g.364204T>G
NG_016423.2:g.364205T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12695T>G MANE Select	NP_001368.2:p.Leu4232Arg
ENST00000375735.7:c.12695T>G MANE Select	ENSP00000364887.2:p.Leu4232Arg
NM_001080463.2:c.12716T>G MANE Plus Clinical	NP_001073932.1:p.Leu4239Arg
ENST00000650373.2:c.12716T>G MANE Plus Clinical	ENSP00000497174.1:p.Leu4239Arg
NM_001080463.1:c.12716T>G	NP_001073932.1:p.Leu4239Arg
NM_001377.2:c.12695T>G	NP_001368.2:p.Leu4232Arg
ENST00000334267.11:c.2534T>G	ENSP00000334021.7:p.Leu845Arg
ENST00000375735.6:c.12695T>G	ENSP00000364887.2:p.Leu4232Arg
ENST00000398093.7:c.12716T>G	ENSP00000381167.3:p.Leu4239Arg
ENST00000527252.1:n.247T>G
ENST00000528670.5:c.1878T>G	ENSP00000433451.1:n.1878T>G
ENST00000530547.1:n.426T>G
ENST00000533197.1:c.446T>G	ENSP00000436736.1:p.Leu149Arg
ENST00000650373.1:c.12716T>G	ENSP00000497174.1:p.Leu4239Arg
XM_006718903.2:c.12674T>G	XP_006718966.1:p.Leu4225Arg
XM_017018291.1:c.12485T>G	XP_016873780.1:p.Leu4162Arg
XM_017018292.1:c.12077T>G	XP_016873781.1:p.Leu4026Arg