Canonical Allele Identifier: CA10617035
Community Standard Title: NM_053025.4(MYLK):c.*764_*765dup
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123613348_123613349dup , CM000665.2:g.123613348_123613349dup GRCh38
NC_000003.11:g.123332195_123332196dup , CM000665.1:g.123332195_123332196dup GRCh37
NC_000003.10:g.124814885_124814886dup NCBI36
NG_029111.1:g.275962_275963dup

Transcript Alleles

HGVS Amino-acid Change
NM_053025.4:c.*764_*765dup (MYLK) MANE Select NP_444253.3:n.*764_*765dup
ENST00000360304.8:c.*764_*765dup (MYLK) MANE Select ENSP00000353452.3:n.*764_*765dup
NM_001321309.1:c.*764_*765dup (MYLK) NP_001308238.1:n.*764_*765dup
NM_001321309.2:c.*764_*765dup (MYLK) NP_001308238.1:n.*764_*765dup
NM_053025.3:c.*764_*765dup (MYLK) NP_444253.3:n.*764_*765dup
NM_053026.3:c.*764_*765dup (MYLK) NP_444254.3:n.*764_*765dup
NM_053026.4:c.*764_*765dup (MYLK) NP_444254.3:n.*764_*765dup
NM_053027.3:c.*764_*765dup (MYLK) NP_444255.3:n.*764_*765dup
NM_053027.4:c.*764_*765dup (MYLK) NP_444255.3:n.*764_*765dup
NM_053028.3:c.*764_*765dup (MYLK) NP_444256.3:n.*764_*765dup
NM_053028.4:c.*764_*765dup (MYLK) NP_444256.3:n.*764_*765dup
NM_053031.2:c.*764_*765dup (MYLK) NP_444259.1:n.*764_*765dup
NM_053031.3:c.*764_*765dup (MYLK) NP_444259.1:n.*764_*765dup
NM_053031.4:c.*764_*765dup (MYLK) NP_444259.1:n.*764_*765dup
NM_053032.2:c.*764_*765dup (MYLK) NP_444260.1:n.*764_*765dup
NM_053032.3:c.*764_*765dup (MYLK) NP_444260.1:n.*764_*765dup
NM_053032.4:c.*764_*765dup (MYLK) NP_444260.1:n.*764_*765dup
NR_038266.2:n.290-16146_290-16145dup (MYLK-AS1)
NR_121654.1:n.197-16146_197-16145dup (MYLK-AS1)
ENST00000354792.9:c.*764_*765dup (MYLK) ENSP00000346846.6:n.*764_*765dup
ENST00000359169.5:c.*764_*765dup (MYLK) ENSP00000352088.1:n.*764_*765dup
ENST00000360304.7:c.*764_*765dup (MYLK) ENSP00000353452.3:n.*764_*765dup
ENST00000360772.7:c.*764_*765dup (MYLK) ENSP00000354004.3:n.*764_*765dup
ENST00000418370.6:c.*764_*765dup (MYLK) ENSP00000428967.1:n.*764_*765dup
ENST00000578202.2:c.*1014_*1015dup (MYLK) ENSP00000463691.2:n.*1014_*1015dup
ENST00000685021.1:c.*764_*765dup (MYLK) ENSP00000508447.1:n.*764_*765dup
ENST00000685744.1:c.*764_*765dup (MYLK) ENSP00000510047.1:n.*764_*765dup
ENST00000685953.1:c.*764_*765dup (MYLK) ENSP00000510593.1:n.*764_*765dup
ENST00000686039.1:c.3893_3894dup (MYLK)
ENST00000687434.1:c.*2725_*2726dup (MYLK) ENSP00000509751.1:n.*2725_*2726dup
ENST00000688024.1:c.*764_*765dup (MYLK) ENSP00000509803.1:n.*764_*765dup
ENST00000688223.1:c.*764_*765dup (MYLK) ENSP00000508935.1:n.*764_*765dup
ENST00000689868.1:n.6769_6770dup (MYLK)
ENST00000691933.1:c.4133_4134dup (MYLK)
ENST00000692507.1:n.2313_2314dup (MYLK)
ENST00000693689.1:c.*764_*765dup (MYLK) ENSP00000510503.1:n.*764_*765dup
XM_017006469.2:c.*764_*765dup (MYLK) XP_016861958.1:n.*764_*765dup
XM_017006470.2:c.*764_*765dup (MYLK) XP_016861959.1:n.*764_*765dup
XM_017006471.2:c.*764_*765dup (MYLK) XP_016861960.1:n.*764_*765dup
XM_017006472.2:c.*764_*765dup (MYLK) XP_016861961.1:n.*764_*765dup
XM_017006473.1:c.*764_*765dup (MYLK) XP_016861962.1:n.*764_*765dup