Canonical Allele Identifier: CA302647
Gene: MYH11 HGNC NCBI
NDE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156401
ClinVar RCV Id: RCV000172830 RCV001449889
dbSNP Id: rs786205435
MyVariant Identifiers: chr16:g.15826474T>A (hg19) chr16:g.15732617T>A (hg38)
PubMed: PMID:25407000
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15732617T>A , CM000678.2:g.15732617T>A GRCh38
NC_000016.9:g.15826474T>A , CM000678.1:g.15826474T>A GRCh37
NC_000016.8:g.15733975T>A NCBI36
NG_009299.1:g.129414A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000300036.6:c.3598A>T (MYH11) MANE Select ENSP00000300036.5:p.Lys1200Ter
ENST00000452625.7:c.3619A>T (MYH11) MANE Plus Clinical ENSP00000407821.2:p.Lys1207Ter
ENST00000576790.7:c.3598A>T (MYH11) ENSP00000458731.1:p.Lys1200Ter
ENST00000652121.1:c.*1781A>T (MYH11) ENSP00000498314.1:n.*1781A>T
ENST00000674538.1:c.*1501T>A (NDE1) ENSP00000501547.1:n.*1501T>A
ENST00000674554.1:c.*1001T>A (NDE1) ENSP00000502635.1:n.*1001T>A
ENST00000674588.1:c.*2700T>A (NDE1) ENSP00000502802.1:n.*2700T>A
ENST00000674888.1:c.*1001T>A (NDE1) ENSP00000501936.1:n.*1001T>A
ENST00000674900.1:c.*1410T>A (NDE1) ENSP00000502662.1:n.*1410T>A
ENST00000674995.1:c.*2700T>A (NDE1) ENSP00000502414.1:n.*2700T>A
ENST00000675171.1:c.*1761T>A (NDE1) ENSP00000501812.1:n.*1761T>A
ENST00000675926.1:c.*1001T>A (NDE1) ENSP00000502354.1:n.*1001T>A
ENST00000675951.1:c.*2882T>A (NDE1) ENSP00000502160.1:n.*2882T>A
ENST00000300036.5:c.3598A>T (MYH11) ENSP00000300036.5:p.Lys1200Ter
ENST00000396324.7:c.3619A>T (MYH11) ENSP00000379616.3:p.Lys1207Ter
ENST00000452625.6:c.3619A>T (MYH11) ENSP00000407821.2:p.Lys1207Ter
ENST00000576790.6:c.3598A>T (MYH11) ENSP00000458731.1:p.Lys1200Ter
ENST00000616439.4:c.3619A>T (MYH11) ENSP00000484924.1:p.Lys1207Ter
NM_001040113.1:c.3619A>T (MYH11) NP_001035202.1:p.Lys1207Ter
NM_001040114.1:c.3619A>T (MYH11) NP_001035203.1:p.Lys1207Ter
NM_002474.2:c.3598A>T (MYH11) NP_002465.1:p.Lys1200Ter
NM_022844.2:c.3598A>T (MYH11) NP_074035.1:p.Lys1200Ter
XM_011522502.1:c.3598A>T (MYH11) XP_011520804.1:p.Lys1200Ter
XM_011522502.2:c.3598A>T (MYH11) XP_011520804.1:p.Lys1200Ter
XM_017023250.1:c.3619A>T (MYH11) XP_016878739.1:p.Lys1207Ter
NM_002474.3:c.3598A>T (MYH11) MANE Select NP_002465.1:p.Lys1200Ter
NM_001040113.2:c.3619A>T (MYH11) MANE Plus Clinical NP_001035202.1:p.Lys1207Ter
NM_001040114.2:c.3619A>T (MYH11) NP_001035203.1:p.Lys1207Ter
NM_022844.3:c.3598A>T (MYH11) NP_074035.1:p.Lys1200Ter
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