Canonical Allele Identifier: CA16606133
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103283078C>T , CM000673.2:g.103283078C>T GRCh38
NC_000011.9:g.103153807C>T , CM000673.1:g.103153807C>T GRCh37
NC_000011.8:g.102659017C>T NCBI36
NG_016423.1:g.178648C>T
NG_016423.2:g.178648C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.10904C>T MANE Plus Clinical ENSP00000497174.1:p.Thr3635Ile
ENST00000375735.7:c.10883C>T MANE Select ENSP00000364887.2:p.Thr3628Ile
ENST00000650373.1:c.10904C>T ENSP00000497174.1:p.Thr3635Ile
ENST00000334267.11:c.2205+148659C>T ENSP00000334021.7:n.2205+148659C>T
ENST00000375735.6:c.10883C>T ENSP00000364887.2:p.Thr3628Ile
ENST00000398093.7:c.10904C>T ENSP00000381167.3:p.Thr3635Ile
ENST00000525306.1:n.144C>T
ENST00000528670.5:c.62C>T ENSP00000433451.1:p.Thr21Ile
NM_001080463.1:c.10904C>T NP_001073932.1:p.Thr3635Ile
NM_001377.2:c.10883C>T NP_001368.2:p.Thr3628Ile
XM_006718903.2:c.10862C>T XP_006718966.1:p.Thr3621Ile
XM_017018291.1:c.10883C>T XP_016873780.1:p.Thr3628Ile
XM_017018292.1:c.10265C>T XP_016873781.1:p.Thr3422Ile
NM_001377.3:c.10883C>T MANE Select NP_001368.2:p.Thr3628Ile
NM_001080463.2:c.10904C>T MANE Plus Clinical NP_001073932.1:p.Thr3635Ile