Canonical Allele Identifier: CA221477
Community Standard Title: NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)
Gene: DYNC2H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103219963G>A , CM000673.2:g.103219963G>A GRCh38
NC_000011.9:g.103090692G>A , CM000673.1:g.103090692G>A GRCh37
NC_000011.8:g.102595902G>A NCBI36
NG_016423.1:g.115533G>A
NG_016423.2:g.115533G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001377.3:c.8881G>A MANE Select NP_001368.2:p.Ala2961Thr
ENST00000375735.7:c.8881G>A MANE Select ENSP00000364887.2:p.Ala2961Thr
NM_001080463.2:c.8881G>A MANE Plus Clinical NP_001073932.1:p.Ala2961Thr
ENST00000650373.2:c.8881G>A MANE Plus Clinical ENSP00000497174.1:p.Ala2961Thr
NM_001080463.1:c.8881G>A NP_001073932.1:p.Ala2961Thr
NM_001377.2:c.8881G>A NP_001368.2:p.Ala2961Thr
ENST00000334267.11:c.2205+85544G>A ENSP00000334021.7:n.2205+85544G>A
ENST00000375735.6:c.8881G>A ENSP00000364887.2:p.Ala2961Thr
ENST00000398093.7:c.8881G>A ENSP00000381167.3:p.Ala2961Thr
ENST00000650373.1:c.8881G>A ENSP00000497174.1:p.Ala2961Thr
XM_006718903.2:c.8860G>A XP_006718966.1:p.Ala2954Thr
XM_017018291.1:c.8881G>A XP_016873780.1:p.Ala2961Thr
XM_017018292.1:c.8263G>A XP_016873781.1:p.Ala2755Thr