Canonical Allele Identifier: CA7921886

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15726898C>T , CM000678.2:g.15726898C>T GRCh38
NC_000016.9:g.15820755C>T , CM000678.1:g.15820755C>T GRCh37
NC_000016.8:g.15728256C>T NCBI36
NG_009299.1:g.135133G>A
NG_021210.1:g.88632C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300036.6:c.3808G>A (MYH11) MANE Select ENSP00000300036.5:p.Asp1270Asn
ENST00000452625.7:c.3829G>A (MYH11) MANE Plus Clinical ENSP00000407821.2:p.Asp1277Asn
ENST00000576790.7:c.3808G>A (MYH11) ENSP00000458731.1:p.Asp1270Asn
ENST00000652121.1:c.*1991G>A (MYH11) ENSP00000498314.1:n.*1991G>A
ENST00000674538.1:c.*1266C>T (NDE1) ENSP00000501547.1:n.*1266C>T
ENST00000674554.1:c.*868+1779C>T (NDE1) ENSP00000502635.1:n.*868+1779C>T
ENST00000674588.1:c.*2465C>T (NDE1) ENSP00000502802.1:n.*2465C>T
ENST00000674888.1:c.*868+1779C>T (NDE1) ENSP00000501936.1:n.*868+1779C>T
ENST00000674900.1:c.*1277+1779C>T (NDE1) ENSP00000502662.1:n.*1277+1779C>T
ENST00000674995.1:c.*2465C>T (NDE1) ENSP00000502414.1:n.*2465C>T
ENST00000675171.1:c.*1628+1779C>T (NDE1) ENSP00000501812.1:n.*1628+1779C>T
ENST00000675926.1:c.*868+1779C>T (NDE1) ENSP00000502354.1:n.*868+1779C>T
ENST00000675951.1:c.*2647C>T (NDE1) ENSP00000502160.1:n.*2647C>T
ENST00000300036.5:c.3808G>A (MYH11) ENSP00000300036.5:p.Asp1270Asn
ENST00000396324.7:c.3829G>A (MYH11) ENSP00000379616.3:p.Asp1277Asn
ENST00000452625.6:c.3829G>A (MYH11) ENSP00000407821.2:p.Asp1277Asn
ENST00000576790.6:c.3808G>A (MYH11) ENSP00000458731.1:p.Asp1270Asn
ENST00000616439.4:c.3829G>A (MYH11) ENSP00000484924.1:p.Asp1277Asn
NM_001040113.1:c.3829G>A (MYH11) NP_001035202.1:p.Asp1277Asn
NM_001040114.1:c.3829G>A (MYH11) NP_001035203.1:p.Asp1277Asn
NM_002474.2:c.3808G>A (MYH11) NP_002465.1:p.Asp1270Asn
NM_022844.2:c.3808G>A (MYH11) NP_074035.1:p.Asp1270Asn
XM_011522502.1:c.3808G>A (MYH11) XP_011520804.1:p.Asp1270Asn
XM_011522502.2:c.3808G>A (MYH11) XP_011520804.1:p.Asp1270Asn
XM_017023250.1:c.3829G>A (MYH11) XP_016878739.1:p.Asp1277Asn
NM_002474.3:c.3808G>A (MYH11) MANE Select NP_002465.1:p.Asp1270Asn
NM_001040113.2:c.3829G>A (MYH11) MANE Plus Clinical NP_001035202.1:p.Asp1277Asn
NM_001040114.2:c.3829G>A (MYH11) NP_001035203.1:p.Asp1277Asn
NM_022844.3:c.3808G>A (MYH11) NP_074035.1:p.Asp1270Asn