Canonical Allele Identifier: CA394847323

Gene: MYH11 NDE1

Linked Data

• ClinVar Variation Id: 1748399
• ClinVar RCV Id: RCV002344728
• MyVariant Identifiers: chr16:g.15809055T>C (hg19) ; chr16:g.15715198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15715198T>C , CM000678.2:g.15715198T>C	GRCh38
NC_000016.9:g.15809055T>C , CM000678.1:g.15809055T>C	GRCh37
NC_000016.8:g.15716556T>C	NCBI36
NG_009299.1:g.146833A>G
NG_021210.1:g.76932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.5579A>G (MYH11) MANE Select	ENSP00000300036.5:p.Asp1860Gly
ENST00000396354.6:c.948-8993T>C (NDE1) MANE Select	ENSP00000379642.1:n.948-8993T>C
ENST00000452625.7:c.5600A>G (MYH11) MANE Plus Clinical	ENSP00000407821.2:p.Asp1867Gly
ENST00000572756.6:c.796-8993T>C (NDE1)	ENSP00000460436.2:n.796-8993T>C
ENST00000576164.6:n.3499A>G (MYH11)
ENST00000576790.7:c.5579A>G (MYH11)	ENSP00000458731.1:p.Asp1860Gly
ENST00000577101.6:c.1031-8993T>C (NDE1)	ENSP00000461729.2:n.1031-8993T>C
ENST00000652121.1:c.*3762A>G (MYH11)	ENSP00000498314.1:n.*3762A>G
ENST00000674538.1:c.796-8993T>C (NDE1)	ENSP00000501547.1:n.796-8993T>C
ENST00000674554.1:c.948-8993T>C (NDE1)	ENSP00000502635.1:n.948-8993T>C
ENST00000674581.1:c.*7-8993T>C (NDE1)	ENSP00000502100.1:n.*7-8993T>C
ENST00000674588.1:c.796-8993T>C (NDE1)	ENSP00000502802.1:n.796-8993T>C
ENST00000674888.1:c.948-8993T>C (NDE1)	ENSP00000501936.1:n.948-8993T>C
ENST00000674900.1:c.*349-8993T>C (NDE1)	ENSP00000502662.1:n.*349-8993T>C
ENST00000674995.1:c.796-9077T>C (NDE1)	ENSP00000502414.1:n.796-9077T>C
ENST00000675171.1:c.*700-8993T>C (NDE1)	ENSP00000501812.1:n.*700-8993T>C
ENST00000675926.1:c.948-8993T>C (NDE1)	ENSP00000502354.1:n.948-8993T>C
ENST00000675951.1:c.948-8993T>C (NDE1)	ENSP00000502160.1:n.948-8993T>C
ENST00000300036.5:c.5579A>G (MYH11)	ENSP00000300036.5:p.Asp1860Gly
ENST00000342673.9:c.948-8993T>C (NDE1)	ENSP00000345892.5:n.948-8993T>C
ENST00000396324.7:c.5600A>G (MYH11)	ENSP00000379616.3:p.Asp1867Gly
ENST00000396354.5:c.948-8993T>C (NDE1)	ENSP00000379642.1:n.948-8993T>C
ENST00000396355.5:c.948-8993T>C (NDE1)	ENSP00000379643.1:n.948-8993T>C
ENST00000452625.6:c.5600A>G (MYH11)	ENSP00000407821.2:p.Asp1867Gly
ENST00000571275.1:n.1867A>G (MYH11)
ENST00000572967.1:c.453-8993T>C (NDE1)	ENSP00000459918.1:n.453-8993T>C
ENST00000573694.5:c.380-8993T>C (NDE1)
ENST00000576164.5:n.3499A>G (MYH11)
ENST00000576790.6:c.5579A>G (MYH11)	ENSP00000458731.1:p.Asp1860Gly
ENST00000616439.4:c.5600A>G (MYH11)	ENSP00000484924.1:p.Asp1867Gly
NM_001040113.1:c.5600A>G (MYH11)	NP_001035202.1:p.Asp1867Gly
NM_001040114.1:c.5600A>G (MYH11)	NP_001035203.1:p.Asp1867Gly
NM_001143979.1:c.948-8993T>C (NDE1)	NP_001137451.1:n.948-8993T>C
NM_002474.2:c.5579A>G (MYH11)	NP_002465.1:p.Asp1860Gly
NM_017668.2:c.948-8993T>C (NDE1)	NP_060138.1:n.948-8993T>C
NM_022844.2:c.5579A>G (MYH11)	NP_074035.1:p.Asp1860Gly
XM_011522502.1:c.5579A>G (MYH11)	XP_011520804.1:p.Asp1860Gly
XM_011522502.2:c.5579A>G (MYH11)	XP_011520804.1:p.Asp1860Gly
XM_017023250.1:c.5600A>G (MYH11)	XP_016878739.1:p.Asp1867Gly
NM_002474.3:c.5579A>G (MYH11) MANE Select	NP_002465.1:p.Asp1860Gly
NM_017668.3:c.948-8993T>C (NDE1) MANE Select	NP_060138.1:n.948-8993T>C
NM_001040113.2:c.5600A>G (MYH11) MANE Plus Clinical	NP_001035202.1:p.Asp1867Gly
NM_001143979.2:c.948-8993T>C (NDE1)	NP_001137451.1:n.948-8993T>C
NM_001040114.2:c.5600A>G (MYH11)	NP_001035203.1:p.Asp1867Gly
NM_022844.3:c.5579A>G (MYH11)	NP_074035.1:p.Asp1860Gly