Canonical Allele Identifier: CA227471858

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103479160G>T , CM000673.2:g.103479160G>T	GRCh38
NC_000011.9:g.103349888G>T , CM000673.1:g.103349888G>T	GRCh37
NC_000011.8:g.102855098G>T	NCBI36
NG_016423.1:g.374729G>T
NG_016423.2:g.374730G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12831G>T MANE Select	NP_001368.2:p.Arg4277Ser
ENST00000375735.7:c.12831G>T MANE Select	ENSP00000364887.2:p.Arg4277Ser
NM_001080463.2:c.12852G>T MANE Plus Clinical	NP_001073932.1:p.Arg4284Ser
ENST00000650373.2:c.12852G>T MANE Plus Clinical	ENSP00000497174.1:p.Arg4284Ser
NM_001080463.1:c.12852G>T	NP_001073932.1:p.Arg4284Ser
NM_001377.2:c.12831G>T	NP_001368.2:p.Arg4277Ser
ENST00000334267.11:c.2670G>T	ENSP00000334021.7:p.Arg890Ser
ENST00000375735.6:c.12831G>T	ENSP00000364887.2:p.Arg4277Ser
ENST00000398093.7:c.12852G>T	ENSP00000381167.3:p.Arg4284Ser
ENST00000527252.1:n.383G>T
ENST00000528670.5:c.2014G>T	ENSP00000433451.1:n.2014G>T
ENST00000530547.1:n.562G>T
ENST00000533197.1:c.582G>T	ENSP00000436736.1:p.Arg194Ser
ENST00000650373.1:c.12852G>T	ENSP00000497174.1:p.Arg4284Ser
XM_006718903.2:c.12810G>T	XP_006718966.1:p.Arg4270Ser
XM_017018291.1:c.12621G>T	XP_016873780.1:p.Arg4207Ser
XM_017018292.1:c.12213G>T	XP_016873781.1:p.Arg4071Ser