Canonical Allele Identifier: CA382260831

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103211944G>T , CM000673.2:g.103211944G>T	GRCh38
NC_000011.9:g.103082673G>T , CM000673.1:g.103082673G>T	GRCh37
NC_000011.8:g.102587883G>T	NCBI36
NG_016423.1:g.107514G>T
NG_016423.2:g.107514G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.8694+1G>T MANE Select	NP_001368.2:n.8694+1G>T
ENST00000375735.7:c.8694+1G>T MANE Select	ENSP00000364887.2:n.8694+1G>T
NM_001080463.2:c.8694+1G>T MANE Plus Clinical	NP_001073932.1:n.8694+1G>T
ENST00000650373.2:c.8694+1G>T MANE Plus Clinical	ENSP00000497174.1:n.8694+1G>T
NM_001080463.1:c.8694+1G>T	NP_001073932.1:n.8694+1G>T
NM_001377.2:c.8694+1G>T	NP_001368.2:n.8694+1G>T
ENST00000334267.11:c.2205+77525G>T	ENSP00000334021.7:n.2205+77525G>T
ENST00000375735.6:c.8694+1G>T	ENSP00000364887.2:n.8694+1G>T
ENST00000398093.7:c.8694+1G>T	ENSP00000381167.3:n.8694+1G>T
ENST00000533027.1:n.294+1G>T
ENST00000650373.1:c.8694+1G>T	ENSP00000497174.1:n.8694+1G>T
XM_006718903.2:c.8673+1G>T	XP_006718966.1:n.8673+1G>T
XM_017018291.1:c.8694+1G>T	XP_016873780.1:n.8694+1G>T
XM_017018292.1:c.8076+1G>T	XP_016873781.1:n.8076+1G>T