Canonical Allele Identifier: CA292291

Gene: MYH11 NDE1

Linked Data

• ClinVar Variation Id: 138337
• ClinVar RCV Id: RCV000126945 ; RCV000274667 ; RCV000242975 ; RCV000467652 ; RCV000617351 ; RCV001116427 ; RCV001812081
• dbSNP Id: rs16967510
• ExAC: 16:15818842 A / G
• gnomAD v2: 16-15818842-A-G
• gnomAD v3: 16-15724985-A-G
• gnomAD v4: 16-15724985-A-G
• MyVariant Identifiers: chr16:g.15818842A>G (hg19) ; chr16:g.15724985A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.15724985A>G , CM000678.2:g.15724985A>G	GRCh38
NC_000016.9:g.15818842A>G , CM000678.1:g.15818842A>G	GRCh37
NC_000016.8:g.15726343A>G	NCBI36
NG_009299.1:g.137046T>C
NG_021210.1:g.86719A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.3866T>C (MYH11) MANE Select	ENSP00000300036.5:p.Val1289Ala
ENST00000396354.6:c.*734A>G (NDE1) MANE Select	ENSP00000379642.1:n.*734A>G
ENST00000452625.7:c.3887T>C (MYH11) MANE Plus Clinical	ENSP00000407821.2:p.Val1296Ala
ENST00000576790.7:c.3866T>C (MYH11)	ENSP00000458731.1:p.Val1289Ala
ENST00000577101.6:c.1825A>G (NDE1)	ENSP00000461729.2:n.1825A>G
ENST00000652121.1:c.*2049T>C (MYH11)	ENSP00000498314.1:n.*2049T>C
ENST00000674538.1:c.*552A>G (NDE1)	ENSP00000501547.1:n.*552A>G
ENST00000674554.1:c.*734A>G (NDE1)	ENSP00000502635.1:n.*734A>G
ENST00000674581.1:c.*801A>G (NDE1)	ENSP00000502100.1:n.*801A>G
ENST00000674588.1:c.*552A>G (NDE1)	ENSP00000502802.1:n.*552A>G
ENST00000674888.1:c.*734A>G (NDE1)	ENSP00000501936.1:n.*734A>G
ENST00000674900.1:c.*1143A>G (NDE1)	ENSP00000502662.1:n.*1143A>G
ENST00000674995.1:c.*552A>G (NDE1)	ENSP00000502414.1:n.*552A>G
ENST00000675171.1:c.*1494A>G (NDE1)	ENSP00000501812.1:n.*1494A>G
ENST00000675926.1:c.*734A>G (NDE1)	ENSP00000502354.1:n.*734A>G
ENST00000675951.1:c.*734A>G (NDE1)	ENSP00000502160.1:n.*734A>G
ENST00000300036.5:c.3866T>C (MYH11)	ENSP00000300036.5:p.Val1289Ala
ENST00000342673.9:c.*734A>G (NDE1)	ENSP00000345892.5:n.*734A>G
ENST00000396324.7:c.3887T>C (MYH11)	ENSP00000379616.3:p.Val1296Ala
ENST00000396354.5:c.*734A>G (NDE1)	ENSP00000379642.1:n.*734A>G
ENST00000396355.5:c.*734A>G (NDE1)	ENSP00000379643.1:n.*734A>G
ENST00000452625.6:c.3887T>C (MYH11)	ENSP00000407821.2:p.Val1296Ala
ENST00000571275.1:n.154T>C (MYH11)
ENST00000576790.6:c.3866T>C (MYH11)	ENSP00000458731.1:p.Val1289Ala
ENST00000616439.4:c.3887T>C (MYH11)	ENSP00000484924.1:p.Val1296Ala
NM_001040113.1:c.3887T>C (MYH11)	NP_001035202.1:p.Val1296Ala
NM_001040114.1:c.3887T>C (MYH11)	NP_001035203.1:p.Val1296Ala
NM_001143979.1:c.*734A>G (NDE1)	NP_001137451.1:n.*734A>G
NM_002474.2:c.3866T>C (MYH11)	NP_002465.1:p.Val1289Ala
NM_017668.2:c.*734A>G (NDE1)	NP_060138.1:n.*734A>G
NM_022844.2:c.3866T>C (MYH11)	NP_074035.1:p.Val1289Ala
XM_011522502.1:c.3866T>C (MYH11)	XP_011520804.1:p.Val1289Ala
XM_011522502.2:c.3866T>C (MYH11)	XP_011520804.1:p.Val1289Ala
XM_017023250.1:c.3887T>C (MYH11)	XP_016878739.1:p.Val1296Ala
NM_002474.3:c.3866T>C (MYH11) MANE Select	NP_002465.1:p.Val1289Ala
NM_017668.3:c.*734A>G (NDE1) MANE Select	NP_060138.1:n.*734A>G
NM_001040113.2:c.3887T>C (MYH11) MANE Plus Clinical	NP_001035202.1:p.Val1296Ala
NM_001143979.2:c.*734A>G (NDE1)	NP_001137451.1:n.*734A>G
NM_001040114.2:c.3887T>C (MYH11)	NP_001035203.1:p.Val1296Ala
NM_022844.3:c.3866T>C (MYH11)	NP_074035.1:p.Val1289Ala