Canonical Allele Identifier: CA382290108

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103468703C>T , CM000673.2:g.103468703C>T	GRCh38
NC_000011.9:g.103339431C>T , CM000673.1:g.103339431C>T	GRCh37
NC_000011.8:g.102844641C>T	NCBI36
NG_016423.1:g.364272C>T
NG_016423.2:g.364273C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12763C>T MANE Select	NP_001368.2:p.Gln4255Ter
ENST00000375735.7:c.12763C>T MANE Select	ENSP00000364887.2:p.Gln4255Ter
NM_001080463.2:c.12784C>T MANE Plus Clinical	NP_001073932.1:p.Gln4262Ter
ENST00000650373.2:c.12784C>T MANE Plus Clinical	ENSP00000497174.1:p.Gln4262Ter
NM_001080463.1:c.12784C>T	NP_001073932.1:p.Gln4262Ter
NM_001377.2:c.12763C>T	NP_001368.2:p.Gln4255Ter
ENST00000334267.11:c.2602C>T	ENSP00000334021.7:p.Gln868Ter
ENST00000375735.6:c.12763C>T	ENSP00000364887.2:p.Gln4255Ter
ENST00000398093.7:c.12784C>T	ENSP00000381167.3:p.Gln4262Ter
ENST00000527252.1:n.315C>T
ENST00000528670.5:c.1946C>T	ENSP00000433451.1:n.1946C>T
ENST00000530547.1:n.494C>T
ENST00000533197.1:c.514C>T	ENSP00000436736.1:p.Gln172Ter
ENST00000650373.1:c.12784C>T	ENSP00000497174.1:p.Gln4262Ter
XM_006718903.2:c.12742C>T	XP_006718966.1:p.Gln4248Ter
XM_017018291.1:c.12553C>T	XP_016873780.1:p.Gln4185Ter
XM_017018292.1:c.12145C>T	XP_016873781.1:p.Gln4049Ter