Canonical Allele Identifier: CA382251398

Gene: DYNC2H1

Linked Data

• gnomAD v4: 11-103120993-A-T
• MyVariant Identifiers: chr11:g.102991722A>T (hg19) ; chr11:g.103120993A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103120993A>T , CM000673.2:g.103120993A>T	GRCh38
NC_000011.9:g.102991722A>T , CM000673.1:g.102991722A>T	GRCh37
NC_000011.8:g.102496932A>T	NCBI36
NG_016423.1:g.16563A>T
NG_016423.2:g.16563A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.1317A>T MANE Plus Clinical	ENSP00000497174.1:p.Leu439Phe
ENST00000375735.7:c.1317A>T MANE Select	ENSP00000364887.2:p.Leu439Phe
ENST00000648198.1:c.1317A>T	ENSP00000497329.1:p.Leu439Phe
ENST00000649323.1:c.1317A>T	ENSP00000497581.1:p.Leu439Phe
ENST00000650373.1:c.1317A>T	ENSP00000497174.1:p.Leu439Phe
ENST00000334267.11:c.1317A>T	ENSP00000334021.7:p.Leu439Phe
ENST00000375735.6:c.1317A>T	ENSP00000364887.2:p.Leu439Phe
ENST00000398093.7:c.1317A>T	ENSP00000381167.3:p.Leu439Phe
NM_001080463.1:c.1317A>T	NP_001073932.1:p.Leu439Phe
NM_001377.2:c.1317A>T	NP_001368.2:p.Leu439Phe
XM_006718903.2:c.1317A>T	XP_006718966.1:p.Leu439Phe
XM_017018291.1:c.1317A>T	XP_016873780.1:p.Leu439Phe
XM_017018292.1:c.699A>T	XP_016873781.1:p.Leu233Phe
XM_017018293.1:c.1317A>T	XP_016873782.1:p.Leu439Phe
NM_001377.3:c.1317A>T MANE Select	NP_001368.2:p.Leu439Phe
NM_001080463.2:c.1317A>T MANE Plus Clinical	NP_001073932.1:p.Leu439Phe