Canonical Allele Identifier: CA382289054

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103435991C>T , CM000673.2:g.103435991C>T	GRCh38
NC_000011.9:g.103306719C>T , CM000673.1:g.103306719C>T	GRCh37
NC_000011.8:g.102811929C>T	NCBI36
NG_016423.1:g.331560C>T
NG_016423.2:g.331561C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12415C>T MANE Select	NP_001368.2:p.Gln4139Ter
ENST00000375735.7:c.12415C>T MANE Select	ENSP00000364887.2:p.Gln4139Ter
NM_001080463.2:c.12436C>T MANE Plus Clinical	NP_001073932.1:p.Gln4146Ter
ENST00000650373.2:c.12436C>T MANE Plus Clinical	ENSP00000497174.1:p.Gln4146Ter
NM_001080463.1:c.12436C>T	NP_001073932.1:p.Gln4146Ter
NM_001377.2:c.12415C>T	NP_001368.2:p.Gln4139Ter
ENST00000334267.11:c.2254C>T	ENSP00000334021.7:p.Gln752Ter
ENST00000375735.6:c.12415C>T	ENSP00000364887.2:p.Gln4139Ter
ENST00000398093.7:c.12436C>T	ENSP00000381167.3:p.Gln4146Ter
ENST00000528670.5:c.1598C>T	ENSP00000433451.1:n.1598C>T
ENST00000533197.1:c.166C>T	ENSP00000436736.1:p.Gln56Ter
ENST00000650373.1:c.12436C>T	ENSP00000497174.1:p.Gln4146Ter
XM_006718903.2:c.12394C>T	XP_006718966.1:p.Gln4132Ter
XM_017018291.1:c.12205C>T	XP_016873780.1:p.Gln4069Ter
XM_017018292.1:c.11797C>T	XP_016873781.1:p.Gln3933Ter