Canonical Allele Identifier: CA382239363

Gene: DYNC2H1

Linked Data

• gnomAD v4: 11-103165925-T-A
• MyVariant Identifiers: chr11:g.103036654T>A (hg19) ; chr11:g.103165925T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103165925T>A , CM000673.2:g.103165925T>A	GRCh38
NC_000011.9:g.103036654T>A , CM000673.1:g.103036654T>A	GRCh37
NC_000011.8:g.102541864T>A	NCBI36
NG_016423.1:g.61495T>A
NG_016423.2:g.61495T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.4639T>A MANE Plus Clinical	ENSP00000497174.1:p.Phe1547Ile
ENST00000375735.7:c.4639T>A MANE Select	ENSP00000364887.2:p.Phe1547Ile
ENST00000649323.1:c.*2184T>A	ENSP00000497581.1:n.*2184T>A
ENST00000650373.1:c.4639T>A	ENSP00000497174.1:p.Phe1547Ile
ENST00000334267.11:c.2205+31506T>A	ENSP00000334021.7:n.2205+31506T>A
ENST00000375735.6:c.4639T>A	ENSP00000364887.2:p.Phe1547Ile
ENST00000398093.7:c.4639T>A	ENSP00000381167.3:p.Phe1547Ile
NM_001080463.1:c.4639T>A	NP_001073932.1:p.Phe1547Ile
NM_001377.2:c.4639T>A	NP_001368.2:p.Phe1547Ile
XM_006718903.2:c.4639T>A	XP_006718966.1:p.Phe1547Ile
XM_017018291.1:c.4639T>A	XP_016873780.1:p.Phe1547Ile
XM_017018292.1:c.4021T>A	XP_016873781.1:p.Phe1341Ile
XM_017018293.1:c.4639T>A	XP_016873782.1:p.Phe1547Ile
NM_001377.3:c.4639T>A MANE Select	NP_001368.2:p.Phe1547Ile
NM_001080463.2:c.4639T>A MANE Plus Clinical	NP_001073932.1:p.Phe1547Ile