Canonical Allele Identifier: CA6255630

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103456351A>C , CM000673.2:g.103456351A>C	GRCh38
NC_000011.9:g.103327079A>C , CM000673.1:g.103327079A>C	GRCh37
NC_000011.8:g.102832289A>C	NCBI36
NG_016423.1:g.351920A>C
NG_016423.2:g.351921A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.12664A>C MANE Plus Clinical	ENSP00000497174.1:p.Ile4222Leu
ENST00000375735.7:c.12643A>C MANE Select	ENSP00000364887.2:p.Ile4215Leu
ENST00000650373.1:c.12664A>C	ENSP00000497174.1:p.Ile4222Leu
ENST00000334267.11:c.2482A>C	ENSP00000334021.7:p.Ile828Leu
ENST00000375735.6:c.12643A>C	ENSP00000364887.2:p.Ile4215Leu
ENST00000398093.7:c.12664A>C	ENSP00000381167.3:p.Ile4222Leu
ENST00000528670.5:c.1826A>C	ENSP00000433451.1:n.1826A>C
ENST00000530547.1:n.374A>C
ENST00000533197.1:c.394A>C	ENSP00000436736.1:p.Ile132Leu
NM_001080463.1:c.12664A>C	NP_001073932.1:p.Ile4222Leu
NM_001377.2:c.12643A>C	NP_001368.2:p.Ile4215Leu
XM_006718903.2:c.12622A>C	XP_006718966.1:p.Ile4208Leu
XM_017018291.1:c.12433A>C	XP_016873780.1:p.Ile4145Leu
XM_017018292.1:c.12025A>C	XP_016873781.1:p.Ile4009Leu
NM_001377.3:c.12643A>C MANE Select	NP_001368.2:p.Ile4215Leu
NM_001080463.2:c.12664A>C MANE Plus Clinical	NP_001073932.1:p.Ile4222Leu