Canonical Allele Identifier: CA16043500

Linked Data

ClinVar Variation Id: 374162
ClinVar RCV Id: RCV000414859
dbSNP Id: rs1057518938

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15724166C>G , CM000678.2:g.15724166C>G GRCh38
NC_000016.9:g.15818023C>G , CM000678.1:g.15818023C>G GRCh37
NC_000016.8:g.15725524C>G NCBI36
NG_009299.1:g.137865G>C
NG_021210.1:g.85900C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000300036.6:c.4360G>C (MYH11) MANE Select ENSP00000300036.5:p.Asp1454His
ENST00000396354.6:c.948-25C>G (NDE1) MANE Select ENSP00000379642.1:n.948-25C>G
ENST00000452625.7:c.4381G>C (MYH11) MANE Plus Clinical ENSP00000407821.2:p.Asp1461His
ENST00000572756.6:c.796-25C>G (NDE1) ENSP00000460436.2:n.796-25C>G
ENST00000576164.6:n.163G>C (MYH11)
ENST00000576790.7:c.4360G>C (MYH11) ENSP00000458731.1:p.Asp1454His
ENST00000577101.6:c.1031-25C>G (NDE1) ENSP00000461729.2:n.1031-25C>G
ENST00000652121.1:c.*2543G>C (MYH11) ENSP00000498314.1:n.*2543G>C
ENST00000674538.1:c.796-25C>G (NDE1) ENSP00000501547.1:n.796-25C>G
ENST00000674554.1:c.948-25C>G (NDE1) ENSP00000502635.1:n.948-25C>G
ENST00000674581.1:c.*7-25C>G (NDE1) ENSP00000502100.1:n.*7-25C>G
ENST00000674588.1:c.796-25C>G (NDE1) ENSP00000502802.1:n.796-25C>G
ENST00000674888.1:c.948-25C>G (NDE1) ENSP00000501936.1:n.948-25C>G
ENST00000674900.1:c.*349-25C>G (NDE1) ENSP00000502662.1:n.*349-25C>G
ENST00000674995.1:c.796-109C>G (NDE1) ENSP00000502414.1:n.796-109C>G
ENST00000675171.1:c.*700-25C>G (NDE1) ENSP00000501812.1:n.*700-25C>G
ENST00000675926.1:c.948-25C>G (NDE1) ENSP00000502354.1:n.948-25C>G
ENST00000675951.1:c.948-25C>G (NDE1) ENSP00000502160.1:n.948-25C>G
ENST00000300036.5:c.4360G>C (MYH11) ENSP00000300036.5:p.Asp1454His
ENST00000342673.9:c.948-25C>G (NDE1) ENSP00000345892.5:n.948-25C>G
ENST00000396324.7:c.4381G>C (MYH11) ENSP00000379616.3:p.Asp1461His
ENST00000396354.5:c.948-25C>G (NDE1) ENSP00000379642.1:n.948-25C>G
ENST00000396355.5:c.948-25C>G (NDE1) ENSP00000379643.1:n.948-25C>G
ENST00000452625.6:c.4381G>C (MYH11) ENSP00000407821.2:p.Asp1461His
ENST00000571275.1:n.648G>C (MYH11)
ENST00000572503.1:n.185-25C>G (NDE1)
ENST00000572967.1:c.453-25C>G (NDE1) ENSP00000459918.1:n.453-25C>G
ENST00000573694.5:c.380-25C>G (NDE1)
ENST00000576164.5:n.163G>C (MYH11)
ENST00000576790.6:c.4360G>C (MYH11) ENSP00000458731.1:p.Asp1454His
ENST00000616439.4:c.4381G>C (MYH11) ENSP00000484924.1:p.Asp1461His
NM_001040113.1:c.4381G>C (MYH11) NP_001035202.1:p.Asp1461His
NM_001040114.1:c.4381G>C (MYH11) NP_001035203.1:p.Asp1461His
NM_001143979.1:c.948-25C>G (NDE1) NP_001137451.1:n.948-25C>G
NM_002474.2:c.4360G>C (MYH11) NP_002465.1:p.Asp1454His
NM_017668.2:c.948-25C>G (NDE1) NP_060138.1:n.948-25C>G
NM_022844.2:c.4360G>C (MYH11) NP_074035.1:p.Asp1454His
XM_011522502.1:c.4360G>C (MYH11) XP_011520804.1:p.Asp1454His
XM_011522502.2:c.4360G>C (MYH11) XP_011520804.1:p.Asp1454His
XM_017023250.1:c.4381G>C (MYH11) XP_016878739.1:p.Asp1461His
NM_002474.3:c.4360G>C (MYH11) MANE Select NP_002465.1:p.Asp1454His
NM_017668.3:c.948-25C>G (NDE1) MANE Select NP_060138.1:n.948-25C>G
NM_001040113.2:c.4381G>C (MYH11) MANE Plus Clinical NP_001035202.1:p.Asp1461His
NM_001143979.2:c.948-25C>G (NDE1) NP_001137451.1:n.948-25C>G
NM_001040114.2:c.4381G>C (MYH11) NP_001035203.1:p.Asp1461His
NM_022844.3:c.4360G>C (MYH11) NP_074035.1:p.Asp1454His