Canonical Allele Identifier: CA382260985

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103135923T>A , CM000673.2:g.103135923T>A	GRCh38
NC_000011.9:g.103006652T>A , CM000673.1:g.103006652T>A	GRCh37
NC_000011.8:g.102511862T>A	NCBI36
NG_016423.1:g.31493T>A
NG_016423.2:g.31493T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.2549T>A MANE Select	NP_001368.2:p.Leu850Ter
ENST00000375735.7:c.2549T>A MANE Select	ENSP00000364887.2:p.Leu850Ter
NM_001080463.2:c.2549T>A MANE Plus Clinical	NP_001073932.1:p.Leu850Ter
ENST00000650373.2:c.2549T>A MANE Plus Clinical	ENSP00000497174.1:p.Leu850Ter
NM_001080463.1:c.2549T>A	NP_001073932.1:p.Leu850Ter
NM_001377.2:c.2549T>A	NP_001368.2:p.Leu850Ter
ENST00000334267.11:c.2205+1504T>A	ENSP00000334021.7:n.2205+1504T>A
ENST00000375735.6:c.2549T>A	ENSP00000364887.2:p.Leu850Ter
ENST00000398093.7:c.2549T>A	ENSP00000381167.3:p.Leu850Ter
ENST00000648198.1:c.2567T>A	ENSP00000497329.1:p.Leu856Ter
ENST00000649323.1:c.*6T>A	ENSP00000497581.1:n.*6T>A
ENST00000650373.1:c.2549T>A	ENSP00000497174.1:p.Leu850Ter
XM_006718903.2:c.2549T>A	XP_006718966.1:p.Leu850Ter
XM_017018291.1:c.2549T>A	XP_016873780.1:p.Leu850Ter
XM_017018292.1:c.1931T>A	XP_016873781.1:p.Leu644Ter
XM_017018293.1:c.2549T>A	XP_016873782.1:p.Leu850Ter