Canonical Allele Identifier: CA071148
Community Standard Title: NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met)
Gene: MYLK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123657146G>A , CM000665.2:g.123657146G>A GRCh38
NC_000003.11:g.123375993G>A , CM000665.1:g.123375993G>A GRCh37
NC_000003.10:g.124858683G>A NCBI36
NG_029111.1:g.232157C>T

Transcript Alleles

HGVS Amino-acid Change
NM_053025.4:c.4268C>T MANE Select NP_444253.3:p.Thr1423Met
ENST00000360304.8:c.4268C>T MANE Select ENSP00000353452.3:p.Thr1423Met
NM_001321309.1:c.3740C>T NP_001308238.1:p.Thr1247Met
NM_001321309.2:c.3740C>T NP_001308238.1:p.Thr1247Met
NM_053025.3:c.4268C>T NP_444253.3:p.Thr1423Met
NM_053026.3:c.4061C>T NP_444254.3:p.Thr1354Met
NM_053026.4:c.4061C>T NP_444254.3:p.Thr1354Met
NM_053027.3:c.4268C>T NP_444255.3:p.Thr1423Met
NM_053027.4:c.4268C>T NP_444255.3:p.Thr1423Met
NM_053028.3:c.4061C>T NP_444256.3:p.Thr1354Met
NM_053028.4:c.4061C>T NP_444256.3:p.Thr1354Met
ENST00000346322.10:c.4061C>T ENSP00000320622.6:p.Thr1354Met
ENST00000346322.9:c.4061C>T ENSP00000320622.5:p.Thr1354Met
ENST00000354792.9:c.4061C>T ENSP00000346846.6:p.Thr1354Met
ENST00000359169.5:c.4268C>T ENSP00000352088.1:p.Thr1423Met
ENST00000360304.7:c.4268C>T ENSP00000353452.3:p.Thr1423Met
ENST00000360772.7:c.4268C>T ENSP00000354004.3:p.Thr1423Met
ENST00000464489.5:c.*3847C>T ENSP00000417798.1:n.*3847C>T
ENST00000475616.5:c.4268C>T ENSP00000418335.1:p.Thr1423Met
ENST00000508240.1:c.668C>T ENSP00000422984.1:p.Thr223Met
ENST00000508240.2:c.668C>T ENSP00000422984.2:p.Thr223Met
ENST00000513111.2:n.398C>T
ENST00000684879.1:n.1900C>T
ENST00000685021.1:c.1502C>T ENSP00000508447.1:p.Thr501Met
ENST00000685259.1:c.1806C>T
ENST00000685907.1:n.2049C>T
ENST00000685953.1:c.668C>T ENSP00000510593.1:p.Thr223Met
ENST00000686039.1:c.1652C>T
ENST00000686245.1:c.1385C>T ENSP00000509313.1:p.Thr462Met
ENST00000686406.1:c.4268C>T ENSP00000509044.1:p.Thr1423Met
ENST00000686458.1:n.770C>T
ENST00000686761.1:c.4268C>T ENSP00000508758.1:p.Thr1423Met
ENST00000686822.1:n.4162C>T
ENST00000687434.1:c.*484C>T ENSP00000509751.1:n.*484C>T
ENST00000687709.1:n.2323C>T
ENST00000687848.1:c.4298C>T ENSP00000508761.1:p.Thr1433Met
ENST00000688024.1:c.1502C>T ENSP00000509803.1:p.Thr501Met
ENST00000688223.1:c.1502C>T ENSP00000508935.1:p.Thr501Met
ENST00000689868.1:n.1996C>T
ENST00000689918.1:n.343C>T
ENST00000690086.1:n.369C>T
ENST00000690167.1:n.1939C>T
ENST00000690176.1:n.533C>T
ENST00000690457.1:c.3506C>T ENSP00000508777.1:p.Thr1169Met
ENST00000690534.1:n.789C>T
ENST00000691933.1:c.1806C>T
ENST00000692352.1:c.1806C>T
ENST00000693689.1:c.4061C>T ENSP00000510503.1:p.Thr1354Met
XM_011512860.1:c.4268C>T XP_011511162.1:p.Thr1423Met
XM_011512860.3:c.4298C>T XP_011511162.2:p.Thr1433Met
XM_011512861.1:c.4268C>T XP_011511163.1:p.Thr1423Met
XM_011512861.3:c.4298C>T XP_011511163.2:p.Thr1433Met
XM_011512862.1:c.3740C>T XP_011511164.1:p.Thr1247Met
XM_017006469.2:c.1502C>T XP_016861958.1:p.Thr501Met
XM_017006470.2:c.668C>T XP_016861959.1:p.Thr223Met
XM_017006471.2:c.668C>T XP_016861960.1:p.Thr223Met
XM_024453532.1:c.4298C>T XP_024309300.1:p.Thr1433Met
XM_024453533.1:c.4268C>T XP_024309301.1:p.Thr1423Met
XM_024453534.1:c.4091C>T XP_024309302.1:p.Thr1364Met
XM_024453535.1:c.4061C>T XP_024309303.1:p.Thr1354Met
XM_024453536.1:c.4268C>T XP_024309304.1:p.Thr1423Met
XM_024453537.1:c.4268C>T XP_024309305.1:p.Thr1423Met