Canonical Allele Identifier: CA068101
Gene: MYLK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123708719G>A , CM000665.2:g.123708719G>A GRCh38
NC_000003.11:g.123427566G>A , CM000665.1:g.123427566G>A GRCh37
NC_000003.10:g.124910256G>A NCBI36
NG_029111.1:g.180584C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.1912C>T ENSP00000320622.6:p.Gln638Ter
ENST00000686406.1:c.2119C>T ENSP00000509044.1:p.Gln707Ter
ENST00000686761.1:c.2119C>T ENSP00000508758.1:p.Gln707Ter
ENST00000686822.1:n.2013C>T
ENST00000687848.1:c.2149C>T ENSP00000508761.1:p.Gln717Ter
ENST00000690457.1:c.1357C>T ENSP00000508777.1:p.Gln453Ter
ENST00000693689.1:c.1912C>T ENSP00000510503.1:p.Gln638Ter
ENST00000360304.8:c.2119C>T MANE Select ENSP00000353452.3:p.Gln707Ter
ENST00000346322.9:c.1912C>T ENSP00000320622.5:p.Gln638Ter
ENST00000354792.9:c.1912C>T ENSP00000346846.6:p.Gln638Ter
ENST00000359169.5:c.2119C>T ENSP00000352088.1:p.Gln707Ter
ENST00000360304.7:c.2119C>T ENSP00000353452.3:p.Gln707Ter
ENST00000360772.7:c.2119C>T ENSP00000354004.3:p.Gln707Ter
ENST00000464489.5:c.*1698C>T ENSP00000417798.1:n.*1698C>T
ENST00000475616.5:c.2119C>T ENSP00000418335.1:p.Gln707Ter
NM_053025.3:c.2119C>T NP_444253.3:p.Gln707Ter
NM_053026.3:c.1912C>T NP_444254.3:p.Gln638Ter
NM_053027.3:c.2119C>T NP_444255.3:p.Gln707Ter
NM_053028.3:c.1912C>T NP_444256.3:p.Gln638Ter
XM_011512860.1:c.2119C>T XP_011511162.1:p.Gln707Ter
XM_011512861.1:c.2119C>T XP_011511163.1:p.Gln707Ter
XM_011512862.1:c.1591C>T XP_011511164.1:p.Gln531Ter
XR_241556.2:n.314-3638G>A
XR_427403.2:n.407-3534G>A
XR_924414.1:n.407-3638G>A
XR_924415.1:n.404-3638G>A
XR_924416.1:n.231-3638G>A
XR_924417.1:n.227-3638G>A
XR_924418.1:n.407-3638G>A
NM_001321309.1:c.1591C>T NP_001308238.1:p.Gln531Ter
XM_011512860.3:c.2149C>T XP_011511162.2:p.Gln717Ter
XM_011512861.3:c.2149C>T XP_011511163.2:p.Gln717Ter
XM_024453532.1:c.2149C>T XP_024309300.1:p.Gln717Ter
XM_024453533.1:c.2119C>T XP_024309301.1:p.Gln707Ter
XM_024453534.1:c.1942C>T XP_024309302.1:p.Gln648Ter
XM_024453535.1:c.1912C>T XP_024309303.1:p.Gln638Ter
XM_024453536.1:c.2119C>T XP_024309304.1:p.Gln707Ter
XM_024453537.1:c.2119C>T XP_024309305.1:p.Gln707Ter
XR_001740871.2:n.407-3534G>A
XR_427403.4:n.407-3534G>A
XR_924414.3:n.407-3638G>A
XR_924417.3:n.252-3638G>A
XR_924418.3:n.407-3638G>A
NM_001321309.2:c.1591C>T NP_001308238.1:p.Gln531Ter
NM_053025.4:c.2119C>T MANE Select NP_444253.3:p.Gln707Ter
NM_053026.4:c.1912C>T NP_444254.3:p.Gln638Ter
NM_053027.4:c.2119C>T NP_444255.3:p.Gln707Ter
NM_053028.4:c.1912C>T NP_444256.3:p.Gln638Ter