Canonical Allele Identifier: CA476600754

Gene: DYNC2H1

Linked Data

• dbSNP Id: rs1249389290
• gnomAD v4: 11-103165999-A-G
• MyVariant Identifiers: chr11:g.103036728A>G (hg19) ; chr11:g.103165999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103165999A>G , CM000673.2:g.103165999A>G	GRCh38
NC_000011.9:g.103036728A>G , CM000673.1:g.103036728A>G	GRCh37
NC_000011.8:g.102541938A>G	NCBI36
NG_016423.1:g.61569A>G
NG_016423.2:g.61569A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.4713A>G MANE Plus Clinical	ENSP00000497174.1:p.Leu1571=
ENST00000375735.7:c.4713A>G MANE Select	ENSP00000364887.2:p.Leu1571=
ENST00000649323.1:c.*2258A>G	ENSP00000497581.1:n.*2258A>G
ENST00000650373.1:c.4713A>G	ENSP00000497174.1:p.Leu1571=
ENST00000334267.11:c.2205+31580A>G	ENSP00000334021.7:n.2205+31580A>G
ENST00000375735.6:c.4713A>G	ENSP00000364887.2:p.Leu1571=
ENST00000398093.7:c.4713A>G	ENSP00000381167.3:p.Leu1571=
NM_001080463.1:c.4713A>G	NP_001073932.1:p.Leu1571=
NM_001377.2:c.4713A>G	NP_001368.2:p.Leu1571=
XM_006718903.2:c.4713A>G	XP_006718966.1:p.Leu1571=
XM_017018291.1:c.4713A>G	XP_016873780.1:p.Leu1571=
XM_017018292.1:c.4095A>G	XP_016873781.1:p.Leu1365=
XM_017018293.1:c.4713A>G	XP_016873782.1:p.Leu1571=
NM_001377.3:c.4713A>G MANE Select	NP_001368.2:p.Leu1571=
NM_001080463.2:c.4713A>G MANE Plus Clinical	NP_001073932.1:p.Leu1571=