Canonical Allele Identifier: CA382261621

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103304702G>A , CM000673.2:g.103304702G>A	GRCh38
NC_000011.9:g.103175431G>A , CM000673.1:g.103175431G>A	GRCh37
NC_000011.8:g.102680641G>A	NCBI36
NG_016423.1:g.200272G>A
NG_016423.2:g.200272G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.11364G>A MANE Select	NP_001368.2:p.Trp3788Ter
ENST00000375735.7:c.11364G>A MANE Select	ENSP00000364887.2:p.Trp3788Ter
NM_001080463.2:c.11385G>A MANE Plus Clinical	NP_001073932.1:p.Trp3795Ter
ENST00000650373.2:c.11385G>A MANE Plus Clinical	ENSP00000497174.1:p.Trp3795Ter
NM_001080463.1:c.11385G>A	NP_001073932.1:p.Trp3795Ter
NM_001377.2:c.11364G>A	NP_001368.2:p.Trp3788Ter
ENST00000334267.11:c.2206-131241G>A	ENSP00000334021.7:n.2206-131241G>A
ENST00000375735.6:c.11364G>A	ENSP00000364887.2:p.Trp3788Ter
ENST00000398093.7:c.11385G>A	ENSP00000381167.3:p.Trp3795Ter
ENST00000528670.5:c.543G>A	ENSP00000433451.1:p.Trp181Ter
ENST00000650373.1:c.11385G>A	ENSP00000497174.1:p.Trp3795Ter
XM_006718903.2:c.11343G>A	XP_006718966.1:p.Trp3781Ter
XM_017018291.1:c.11364G>A	XP_016873780.1:p.Trp3788Ter
XM_017018292.1:c.10746G>A	XP_016873781.1:p.Trp3582Ter