Canonical Allele Identifier: CA382250527

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103186442G>C , CM000673.2:g.103186442G>C	GRCh38
NC_000011.9:g.103057171G>C , CM000673.1:g.103057171G>C	GRCh37
NC_000011.8:g.102562381G>C	NCBI36
NG_016423.1:g.82012G>C
NG_016423.2:g.82012G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.6834G>C MANE Select	NP_001368.2:p.Trp2278Cys
ENST00000375735.7:c.6834G>C MANE Select	ENSP00000364887.2:p.Trp2278Cys
NM_001080463.2:c.6834G>C MANE Plus Clinical	NP_001073932.1:p.Trp2278Cys
ENST00000650373.2:c.6834G>C MANE Plus Clinical	ENSP00000497174.1:p.Trp2278Cys
NM_001080463.1:c.6834G>C	NP_001073932.1:p.Trp2278Cys
NM_001377.2:c.6834G>C	NP_001368.2:p.Trp2278Cys
ENST00000334267.11:c.2205+52023G>C	ENSP00000334021.7:n.2205+52023G>C
ENST00000375735.6:c.6834G>C	ENSP00000364887.2:p.Trp2278Cys
ENST00000398093.7:c.6834G>C	ENSP00000381167.3:p.Trp2278Cys
ENST00000649323.1:c.*4379G>C	ENSP00000497581.1:n.*4379G>C
ENST00000650373.1:c.6834G>C	ENSP00000497174.1:p.Trp2278Cys
XM_006718903.2:c.6834G>C	XP_006718966.1:p.Trp2278Cys
XM_017018291.1:c.6834G>C	XP_016873780.1:p.Trp2278Cys
XM_017018292.1:c.6216G>C	XP_016873781.1:p.Trp2072Cys
XM_017018293.1:c.6834G>C	XP_016873782.1:p.Trp2278Cys