Canonical Allele Identifier: CA072358
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123629605G>A , CM000665.2:g.123629605G>A GRCh38
NC_000003.11:g.123348452G>A , CM000665.1:g.123348452G>A GRCh37
NC_000003.10:g.124831142G>A NCBI36
NG_029111.1:g.259698C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.4755-2664C>T (MYLK) ENSP00000320622.6:n.4755-2664C>T
ENST00000508240.2:c.1383C>T (MYLK) ENSP00000422984.2:p.Phe461=
ENST00000684879.1:n.2615C>T (MYLK)
ENST00000685021.1:c.2217C>T (MYLK) ENSP00000508447.1:p.Phe739=
ENST00000685170.1:n.196C>T (MYLK)
ENST00000685259.1:c.2502C>T (MYLK)
ENST00000685907.1:n.2764C>T (MYLK)
ENST00000685953.1:c.1383C>T (MYLK) ENSP00000510593.1:p.Phe461=
ENST00000686039.1:c.2367C>T (MYLK)
ENST00000686245.1:c.2100C>T (MYLK) ENSP00000509313.1:p.Phe700=
ENST00000686281.1:n.275C>T (MYLK)
ENST00000686406.1:c.4983C>T (MYLK) ENSP00000509044.1:p.Phe1661=
ENST00000686458.1:n.1485C>T (MYLK)
ENST00000686761.1:c.4983C>T (MYLK) ENSP00000508758.1:p.Phe1661=
ENST00000686822.1:n.4877C>T (MYLK)
ENST00000687434.1:c.*1199C>T (MYLK) ENSP00000509751.1:n.*1199C>T
ENST00000687709.1:n.3038C>T (MYLK)
ENST00000687848.1:c.5013C>T (MYLK) ENSP00000508761.1:p.Phe1671=
ENST00000688024.1:c.2217C>T (MYLK) ENSP00000509803.1:p.Phe739=
ENST00000688223.1:c.2013C>T (MYLK) ENSP00000508935.1:p.Phe671=
ENST00000689446.1:n.188C>T (MYLK)
ENST00000689868.1:n.2711C>T (MYLK)
ENST00000689918.1:n.1058C>T (MYLK)
ENST00000690086.1:n.1084C>T (MYLK)
ENST00000690167.1:n.2654C>T (MYLK)
ENST00000690457.1:c.4221C>T (MYLK) ENSP00000508777.1:p.Phe1407=
ENST00000690534.1:n.1504C>T (MYLK)
ENST00000691933.1:c.2607C>T (MYLK)
ENST00000692811.1:n.433C>T (MYLK)
ENST00000693689.1:c.4776C>T (MYLK) ENSP00000510503.1:p.Phe1592=
ENST00000360304.8:c.4983C>T (MYLK) MANE Select ENSP00000353452.3:p.Phe1661=
ENST00000346322.9:c.4776C>T (MYLK) ENSP00000320622.5:p.Phe1592=
ENST00000354792.9:c.4776C>T (MYLK) ENSP00000346846.6:p.Phe1592=
ENST00000359169.5:c.4962-2664C>T (MYLK) ENSP00000352088.1:n.4962-2664C>T
ENST00000360304.7:c.4983C>T (MYLK) ENSP00000353452.3:p.Phe1661=
ENST00000360772.7:c.4962-2664C>T (MYLK) ENSP00000354004.3:n.4962-2664C>T
ENST00000464489.5:c.*4562C>T (MYLK) ENSP00000417798.1:n.*4562C>T
ENST00000475616.5:c.4983C>T (MYLK) ENSP00000418335.1:p.Phe1661=
NM_053025.3:c.4983C>T (MYLK) NP_444253.3:p.Phe1661=
NM_053026.3:c.4776C>T (MYLK) NP_444254.3:p.Phe1592=
NM_053027.3:c.4962-2664C>T (MYLK) NP_444255.3:n.4962-2664C>T
NM_053028.3:c.4755-2664C>T (MYLK) NP_444256.3:n.4755-2664C>T
NR_038266.2:n.401G>A (MYLK-AS1)
NR_121654.1:n.308G>A (MYLK-AS1)
XM_011512860.1:c.4983C>T (MYLK) XP_011511162.1:p.Phe1661=
XM_011512861.1:c.4779C>T (MYLK) XP_011511163.1:p.Phe1593=
XM_011512862.1:c.4455C>T (MYLK) XP_011511164.1:p.Phe1485=
NM_001321309.1:c.4455C>T (MYLK) NP_001308238.1:p.Phe1485=
XM_011512860.3:c.5013C>T (MYLK) XP_011511162.2:p.Phe1671=
XM_011512861.3:c.4809C>T (MYLK) XP_011511163.2:p.Phe1603=
XM_017006469.2:c.2217C>T (MYLK) XP_016861958.1:p.Phe739=
XM_017006470.2:c.1383C>T (MYLK) XP_016861959.1:p.Phe461=
XM_017006471.2:c.1383C>T (MYLK) XP_016861960.1:p.Phe461=
XM_024453532.1:c.5013C>T (MYLK) XP_024309300.1:p.Phe1671=
XM_024453533.1:c.4983C>T (MYLK) XP_024309301.1:p.Phe1661=
XM_024453534.1:c.4806C>T (MYLK) XP_024309302.1:p.Phe1602=
XM_024453535.1:c.4776C>T (MYLK) XP_024309303.1:p.Phe1592=
XM_024453536.1:c.4983C>T (MYLK) XP_024309304.1:p.Phe1661=
XM_024453537.1:c.4983C>T (MYLK) XP_024309305.1:p.Phe1661=
NM_001321309.2:c.4455C>T (MYLK) NP_001308238.1:p.Phe1485=
NM_053025.4:c.4983C>T (MYLK) MANE Select NP_444253.3:p.Phe1661=
NM_053026.4:c.4776C>T (MYLK) NP_444254.3:p.Phe1592=
NM_053027.4:c.4962-2664C>T (MYLK) NP_444255.3:n.4962-2664C>T
NM_053028.4:c.4755-2664C>T (MYLK) NP_444256.3:n.4755-2664C>T