Canonical Allele Identifier: CA227451789

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103455191G>A , CM000673.2:g.103455191G>A	GRCh38
NC_000011.9:g.103325919G>A , CM000673.1:g.103325919G>A	GRCh37
NC_000011.8:g.102831129G>A	NCBI36
NG_016423.1:g.350760G>A
NG_016423.2:g.350761G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12462G>A MANE Select	NP_001368.2:p.Trp4154Ter
ENST00000375735.7:c.12462G>A MANE Select	ENSP00000364887.2:p.Trp4154Ter
NM_001080463.2:c.12483G>A MANE Plus Clinical	NP_001073932.1:p.Trp4161Ter
ENST00000650373.2:c.12483G>A MANE Plus Clinical	ENSP00000497174.1:p.Trp4161Ter
NM_001080463.1:c.12483G>A	NP_001073932.1:p.Trp4161Ter
NM_001377.2:c.12462G>A	NP_001368.2:p.Trp4154Ter
ENST00000334267.11:c.2301G>A	ENSP00000334021.7:p.Trp767Ter
ENST00000375735.6:c.12462G>A	ENSP00000364887.2:p.Trp4154Ter
ENST00000398093.7:c.12483G>A	ENSP00000381167.3:p.Trp4161Ter
ENST00000528670.5:c.1645G>A	ENSP00000433451.1:n.1645G>A
ENST00000530547.1:n.193G>A
ENST00000533197.1:c.213G>A	ENSP00000436736.1:p.Trp71Ter
ENST00000650373.1:c.12483G>A	ENSP00000497174.1:p.Trp4161Ter
XM_006718903.2:c.12441G>A	XP_006718966.1:p.Trp4147Ter
XM_017018291.1:c.12252G>A	XP_016873780.1:p.Trp4084Ter
XM_017018292.1:c.11844G>A	XP_016873781.1:p.Trp3948Ter