Canonical Allele Identifier: CA382266243

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103147888G>C , CM000673.2:g.103147888G>C	GRCh38
NC_000011.9:g.103018617G>C , CM000673.1:g.103018617G>C	GRCh37
NC_000011.8:g.102523827G>C	NCBI36
NG_016423.1:g.43458G>C
NG_016423.2:g.43458G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.2818+1G>C MANE Select	NP_001368.2:n.2818+1G>C
ENST00000375735.7:c.2818+1G>C MANE Select	ENSP00000364887.2:n.2818+1G>C
NM_001080463.2:c.2818+1G>C MANE Plus Clinical	NP_001073932.1:n.2818+1G>C
ENST00000650373.2:c.2818+1G>C MANE Plus Clinical	ENSP00000497174.1:n.2818+1G>C
NM_001080463.1:c.2818+1G>C	NP_001073932.1:n.2818+1G>C
NM_001377.2:c.2818+1G>C	NP_001368.2:n.2818+1G>C
ENST00000334267.11:c.2205+13469G>C	ENSP00000334021.7:n.2205+13469G>C
ENST00000375735.6:c.2818+1G>C	ENSP00000364887.2:n.2818+1G>C
ENST00000398093.7:c.2818+1G>C	ENSP00000381167.3:n.2818+1G>C
ENST00000648198.1:c.2836+1G>C	ENSP00000497329.1:n.2836+1G>C
ENST00000649323.1:c.*275+1G>C	ENSP00000497581.1:n.*275+1G>C
ENST00000650373.1:c.2818+1G>C	ENSP00000497174.1:n.2818+1G>C
XM_006718903.2:c.2818+1G>C	XP_006718966.1:n.2818+1G>C
XM_017018291.1:c.2818+1G>C	XP_016873780.1:n.2818+1G>C
XM_017018292.1:c.2200+1G>C	XP_016873781.1:n.2200+1G>C
XM_017018293.1:c.2818+1G>C	XP_016873782.1:n.2818+1G>C