Canonical Allele Identifier: CA382291125

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103479236T>C , CM000673.2:g.103479236T>C	GRCh38
NC_000011.9:g.103349964T>C , CM000673.1:g.103349964T>C	GRCh37
NC_000011.8:g.102855174T>C	NCBI36
NG_016423.1:g.374805T>C
NG_016423.2:g.374806T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.12928T>C MANE Plus Clinical	ENSP00000497174.1:p.Phe4310Leu
ENST00000375735.7:c.12907T>C MANE Select	ENSP00000364887.2:p.Phe4303Leu
ENST00000650373.1:c.12928T>C	ENSP00000497174.1:p.Phe4310Leu
ENST00000334267.11:c.2746T>C	ENSP00000334021.7:p.Phe916Leu
ENST00000375735.6:c.12907T>C	ENSP00000364887.2:p.Phe4303Leu
ENST00000398093.7:c.12928T>C	ENSP00000381167.3:p.Phe4310Leu
ENST00000527252.1:n.459T>C
ENST00000528670.5:c.2090T>C	ENSP00000433451.1:n.2090T>C
ENST00000530547.1:n.638T>C
ENST00000533197.1:c.658T>C	ENSP00000436736.1:p.Phe220Leu
NM_001080463.1:c.12928T>C	NP_001073932.1:p.Phe4310Leu
NM_001377.2:c.12907T>C	NP_001368.2:p.Phe4303Leu
XM_006718903.2:c.12886T>C	XP_006718966.1:p.Phe4296Leu
XM_017018291.1:c.12697T>C	XP_016873780.1:p.Phe4233Leu
XM_017018292.1:c.12289T>C	XP_016873781.1:p.Phe4097Leu
NM_001377.3:c.12907T>C MANE Select	NP_001368.2:p.Phe4303Leu
NM_001080463.2:c.12928T>C MANE Plus Clinical	NP_001073932.1:p.Phe4310Leu