Canonical Allele Identifier: CA247899

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103435986C>G , CM000673.2:g.103435986C>G	GRCh38
NC_000011.9:g.103306714C>G , CM000673.1:g.103306714C>G	GRCh37
NC_000011.8:g.102811924C>G	NCBI36
NG_016423.1:g.331555C>G
NG_016423.2:g.331556C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.12431C>G MANE Plus Clinical	ENSP00000497174.1:p.Pro4144Arg
ENST00000375735.7:c.12410C>G MANE Select	ENSP00000364887.2:p.Pro4137Arg
ENST00000650373.1:c.12431C>G	ENSP00000497174.1:p.Pro4144Arg
ENST00000334267.11:c.2249C>G	ENSP00000334021.7:p.Pro750Arg
ENST00000375735.6:c.12410C>G	ENSP00000364887.2:p.Pro4137Arg
ENST00000398093.7:c.12431C>G	ENSP00000381167.3:p.Pro4144Arg
ENST00000528670.5:c.1593C>G	ENSP00000433451.1:n.1593C>G
ENST00000533197.1:c.161C>G	ENSP00000436736.1:p.Pro54Arg
NM_001080463.1:c.12431C>G	NP_001073932.1:p.Pro4144Arg
NM_001377.2:c.12410C>G	NP_001368.2:p.Pro4137Arg
XM_006718903.2:c.12389C>G	XP_006718966.1:p.Pro4130Arg
XM_017018291.1:c.12200C>G	XP_016873780.1:p.Pro4067Arg
XM_017018292.1:c.11792C>G	XP_016873781.1:p.Pro3931Arg
NM_001377.3:c.12410C>G MANE Select	NP_001368.2:p.Pro4137Arg
NM_001080463.2:c.12431C>G MANE Plus Clinical	NP_001073932.1:p.Pro4144Arg