Canonical Allele Identifier: CA382272925

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103154479G>A , CM000673.2:g.103154479G>A	GRCh38
NC_000011.9:g.103025208G>A , CM000673.1:g.103025208G>A	GRCh37
NC_000011.8:g.102530418G>A	NCBI36
NG_016423.1:g.50049G>A
NG_016423.2:g.50049G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.3331G>A MANE Select	NP_001368.2:p.Glu1111Lys
ENST00000375735.7:c.3331G>A MANE Select	ENSP00000364887.2:p.Glu1111Lys
NM_001080463.2:c.3331G>A MANE Plus Clinical	NP_001073932.1:p.Glu1111Lys
ENST00000650373.2:c.3331G>A MANE Plus Clinical	ENSP00000497174.1:p.Glu1111Lys
NM_001080463.1:c.3331G>A	NP_001073932.1:p.Glu1111Lys
NM_001377.2:c.3331G>A	NP_001368.2:p.Glu1111Lys
ENST00000334267.11:c.2205+20060G>A	ENSP00000334021.7:n.2205+20060G>A
ENST00000375735.6:c.3331G>A	ENSP00000364887.2:p.Glu1111Lys
ENST00000398093.7:c.3331G>A	ENSP00000381167.3:p.Glu1111Lys
ENST00000648198.1:c.3349G>A	ENSP00000497329.1:p.Glu1117Lys
ENST00000649323.1:c.*788G>A	ENSP00000497581.1:n.*788G>A
ENST00000650373.1:c.3331G>A	ENSP00000497174.1:p.Glu1111Lys
XM_006718903.2:c.3331G>A	XP_006718966.1:p.Glu1111Lys
XM_017018291.1:c.3331G>A	XP_016873780.1:p.Glu1111Lys
XM_017018292.1:c.2713G>A	XP_016873781.1:p.Glu905Lys
XM_017018293.1:c.3331G>A	XP_016873782.1:p.Glu1111Lys