Canonical Allele Identifier: CA382273216

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103154594G>A , CM000673.2:g.103154594G>A	GRCh38
NC_000011.9:g.103025323G>A , CM000673.1:g.103025323G>A	GRCh37
NC_000011.8:g.102530533G>A	NCBI36
NG_016423.1:g.50164G>A
NG_016423.2:g.50164G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.3446G>A MANE Select	NP_001368.2:p.Trp1149Ter
ENST00000375735.7:c.3446G>A MANE Select	ENSP00000364887.2:p.Trp1149Ter
NM_001080463.2:c.3446G>A MANE Plus Clinical	NP_001073932.1:p.Trp1149Ter
ENST00000650373.2:c.3446G>A MANE Plus Clinical	ENSP00000497174.1:p.Trp1149Ter
NM_001080463.1:c.3446G>A	NP_001073932.1:p.Trp1149Ter
NM_001377.2:c.3446G>A	NP_001368.2:p.Trp1149Ter
ENST00000334267.11:c.2205+20175G>A	ENSP00000334021.7:n.2205+20175G>A
ENST00000375735.6:c.3446G>A	ENSP00000364887.2:p.Trp1149Ter
ENST00000398093.7:c.3446G>A	ENSP00000381167.3:p.Trp1149Ter
ENST00000648198.1:c.3464G>A	ENSP00000497329.1:p.Trp1155Ter
ENST00000649323.1:c.*903G>A	ENSP00000497581.1:n.*903G>A
ENST00000650373.1:c.3446G>A	ENSP00000497174.1:p.Trp1149Ter
XM_006718903.2:c.3446G>A	XP_006718966.1:p.Trp1149Ter
XM_017018291.1:c.3446G>A	XP_016873780.1:p.Trp1149Ter
XM_017018292.1:c.2828G>A	XP_016873781.1:p.Trp943Ter
XM_017018293.1:c.3446G>A	XP_016873782.1:p.Trp1149Ter