Canonical Allele Identifier: CA382271199

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103323978G>C , CM000673.2:g.103323978G>C	GRCh38
NC_000011.9:g.103194706G>C , CM000673.1:g.103194706G>C	GRCh37
NC_000011.8:g.102699916G>C	NCBI36
NG_016423.1:g.219547G>C
NG_016423.2:g.219548G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12027G>C MANE Select	NP_001368.2:p.Met4009Ile
ENST00000375735.7:c.12027G>C MANE Select	ENSP00000364887.2:p.Met4009Ile
NM_001080463.2:c.12048G>C MANE Plus Clinical	NP_001073932.1:p.Met4016Ile
ENST00000650373.2:c.12048G>C MANE Plus Clinical	ENSP00000497174.1:p.Met4016Ile
NM_001080463.1:c.12048G>C	NP_001073932.1:p.Met4016Ile
NM_001377.2:c.12027G>C	NP_001368.2:p.Met4009Ile
ENST00000334267.11:c.2206-111965G>C	ENSP00000334021.7:n.2206-111965G>C
ENST00000375735.6:c.12027G>C	ENSP00000364887.2:p.Met4009Ile
ENST00000398093.7:c.12048G>C	ENSP00000381167.3:p.Met4016Ile
ENST00000528670.5:c.1210G>C	ENSP00000433451.1:n.1210G>C
ENST00000650373.1:c.12048G>C	ENSP00000497174.1:p.Met4016Ile
XM_006718903.2:c.12006G>C	XP_006718966.1:p.Met4002Ile
XM_017018291.1:c.12027G>C	XP_016873780.1:p.Met4009Ile
XM_017018292.1:c.11409G>C	XP_016873781.1:p.Met3803Ile