Canonical Allele Identifier: CA6255624

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103456330C>T , CM000673.2:g.103456330C>T	GRCh38
NC_000011.9:g.103327058C>T , CM000673.1:g.103327058C>T	GRCh37
NC_000011.8:g.102832268C>T	NCBI36
NG_016423.1:g.351899C>T
NG_016423.2:g.351900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.12643C>T MANE Plus Clinical	ENSP00000497174.1:p.Leu4215=
ENST00000375735.7:c.12622C>T MANE Select	ENSP00000364887.2:p.Leu4208=
ENST00000650373.1:c.12643C>T	ENSP00000497174.1:p.Leu4215=
ENST00000334267.11:c.2461C>T	ENSP00000334021.7:p.Leu821=
ENST00000375735.6:c.12622C>T	ENSP00000364887.2:p.Leu4208=
ENST00000398093.7:c.12643C>T	ENSP00000381167.3:p.Leu4215=
ENST00000528670.5:c.1805C>T	ENSP00000433451.1:n.1805C>T
ENST00000530547.1:n.353C>T
ENST00000533197.1:c.373C>T	ENSP00000436736.1:p.Leu125=
NM_001080463.1:c.12643C>T	NP_001073932.1:p.Leu4215=
NM_001377.2:c.12622C>T	NP_001368.2:p.Leu4208=
XM_006718903.2:c.12601C>T	XP_006718966.1:p.Leu4201=
XM_017018291.1:c.12412C>T	XP_016873780.1:p.Leu4138=
XM_017018292.1:c.12004C>T	XP_016873781.1:p.Leu4002=
NM_001377.3:c.12622C>T MANE Select	NP_001368.2:p.Leu4208=
NM_001080463.2:c.12643C>T MANE Plus Clinical	NP_001073932.1:p.Leu4215=