Canonical Allele Identifier: CA382289543

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103455241C>A , CM000673.2:g.103455241C>A	GRCh38
NC_000011.9:g.103325969C>A , CM000673.1:g.103325969C>A	GRCh37
NC_000011.8:g.102831179C>A	NCBI36
NG_016423.1:g.350810C>A
NG_016423.2:g.350811C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12512C>A MANE Select	NP_001368.2:p.Ser4171Ter
ENST00000375735.7:c.12512C>A MANE Select	ENSP00000364887.2:p.Ser4171Ter
NM_001080463.2:c.12533C>A MANE Plus Clinical	NP_001073932.1:p.Ser4178Ter
ENST00000650373.2:c.12533C>A MANE Plus Clinical	ENSP00000497174.1:p.Ser4178Ter
NM_001080463.1:c.12533C>A	NP_001073932.1:p.Ser4178Ter
NM_001377.2:c.12512C>A	NP_001368.2:p.Ser4171Ter
ENST00000334267.11:c.2351C>A	ENSP00000334021.7:p.Ser784Ter
ENST00000375735.6:c.12512C>A	ENSP00000364887.2:p.Ser4171Ter
ENST00000398093.7:c.12533C>A	ENSP00000381167.3:p.Ser4178Ter
ENST00000528670.5:c.1695C>A	ENSP00000433451.1:n.1695C>A
ENST00000530547.1:n.243C>A
ENST00000533197.1:c.263C>A	ENSP00000436736.1:p.Ser88Ter
ENST00000650373.1:c.12533C>A	ENSP00000497174.1:p.Ser4178Ter
XM_006718903.2:c.12491C>A	XP_006718966.1:p.Ser4164Ter
XM_017018291.1:c.12302C>A	XP_016873780.1:p.Ser4101Ter
XM_017018292.1:c.11894C>A	XP_016873781.1:p.Ser3965Ter