Canonical Allele Identifier: CA354228477
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123614144C>G , CM000665.2:g.123614144C>G GRCh38
NC_000003.11:g.123332991C>G , CM000665.1:g.123332991C>G GRCh37
NC_000003.10:g.124815681C>G NCBI36
NG_029111.1:g.275159G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.5346G>C (MYLK) ENSP00000320622.6:p.Met1782Ile
ENST00000508240.2:c.2106G>C (MYLK) ENSP00000422984.2:p.Met702Ile
ENST00000578202.2:c.*211G>C (MYLK) ENSP00000463691.2:n.*211G>C
ENST00000583087.6:c.426G>C (MYLK) ENSP00000462118.1:p.Met142Ile
ENST00000685021.1:c.2940G>C (MYLK) ENSP00000508447.1:p.Met980Ile
ENST00000685170.1:n.919G>C (MYLK)
ENST00000685259.1:c.3225G>C (MYLK)
ENST00000685744.1:c.423G>C (MYLK) ENSP00000510047.1:p.Met141Ile
ENST00000685907.1:n.3487G>C (MYLK)
ENST00000685953.1:c.2103G>C (MYLK) ENSP00000510593.1:p.Met701Ile
ENST00000686039.1:c.3090G>C (MYLK)
ENST00000686245.1:c.2823G>C (MYLK) ENSP00000509313.1:p.Met941Ile
ENST00000686281.1:n.998G>C (MYLK)
ENST00000686406.1:c.5703G>C (MYLK) ENSP00000509044.1:p.Met1901Ile
ENST00000686458.1:n.2208G>C (MYLK)
ENST00000686761.1:c.5706G>C (MYLK) ENSP00000508758.1:p.Met1902Ile
ENST00000687375.1:c.423G>C (MYLK) ENSP00000509867.1:p.Met141Ile
ENST00000687434.1:c.*1922G>C (MYLK) ENSP00000509751.1:n.*1922G>C
ENST00000687709.1:n.3761G>C (MYLK)
ENST00000687848.1:c.5736G>C (MYLK) ENSP00000508761.1:p.Met1912Ile
ENST00000688024.1:c.2937G>C (MYLK) ENSP00000509803.1:p.Met979Ile
ENST00000688223.1:c.2736G>C (MYLK) ENSP00000508935.1:p.Met912Ile
ENST00000689446.1:n.908G>C (MYLK)
ENST00000689868.1:n.5966G>C (MYLK)
ENST00000689918.1:n.1781G>C (MYLK)
ENST00000690167.1:n.3374G>C (MYLK)
ENST00000690457.1:c.4944G>C (MYLK) ENSP00000508777.1:p.Met1648Ile
ENST00000690656.1:n.411G>C (MYLK)
ENST00000691367.1:n.402G>C (MYLK)
ENST00000691933.1:c.3330G>C (MYLK)
ENST00000692356.1:c.89-32G>C (MYLK) ENSP00000509805.1:n.89-32G>C
ENST00000692507.1:n.1510G>C (MYLK)
ENST00000693689.1:c.5499G>C (MYLK) ENSP00000510503.1:p.Met1833Ile
ENST00000360304.8:c.5706G>C (MYLK) MANE Select ENSP00000353452.3:p.Met1902Ile
ENST00000346322.9:c.5499G>C (MYLK) ENSP00000320622.5:p.Met1833Ile
ENST00000354792.9:c.5499G>C (MYLK) ENSP00000346846.6:p.Met1833Ile
ENST00000359169.5:c.5553G>C (MYLK) ENSP00000352088.1:p.Met1851Ile
ENST00000360304.7:c.5706G>C (MYLK) ENSP00000353452.3:p.Met1902Ile
ENST00000360772.7:c.5553G>C (MYLK) ENSP00000354004.3:p.Met1851Ile
ENST00000418370.6:c.426G>C (MYLK) ENSP00000428967.1:p.Met142Ile
ENST00000464489.5:c.*5285G>C (MYLK) ENSP00000417798.1:n.*5285G>C
ENST00000475616.5:c.5706G>C (MYLK) ENSP00000418335.1:p.Met1902Ile
ENST00000578202.1:c.423G>C (MYLK) ENSP00000463691.1:p.Met141Ile
ENST00000583087.5:c.426G>C (MYLK) ENSP00000462118.1:p.Met142Ile
NM_053025.3:c.5706G>C (MYLK) NP_444253.3:p.Met1902Ile
NM_053026.3:c.5499G>C (MYLK) NP_444254.3:p.Met1833Ile
NM_053027.3:c.5553G>C (MYLK) NP_444255.3:p.Met1851Ile
NM_053028.3:c.5346G>C (MYLK) NP_444256.3:p.Met1782Ile
NM_053031.2:c.423G>C (MYLK) NP_444259.1:p.Met141Ile
NM_053032.2:c.426G>C (MYLK) NP_444260.1:p.Met142Ile
NR_038266.2:n.290-15350C>G (MYLK-AS1)
NR_121654.1:n.197-15350C>G (MYLK-AS1)
XM_011512860.1:c.5703G>C (MYLK) XP_011511162.1:p.Met1901Ile
XM_011512861.1:c.5502G>C (MYLK) XP_011511163.1:p.Met1834Ile
XM_011512862.1:c.5178G>C (MYLK) XP_011511164.1:p.Met1726Ile
NM_001321309.1:c.5178G>C (MYLK) NP_001308238.1:p.Met1726Ile
NM_053031.3:c.423G>C (MYLK) NP_444259.1:p.Met141Ile
NM_053032.3:c.426G>C (MYLK) NP_444260.1:p.Met142Ile
XM_011512860.3:c.5733G>C (MYLK) XP_011511162.2:p.Met1911Ile
XM_011512861.3:c.5532G>C (MYLK) XP_011511163.2:p.Met1844Ile
XM_017006469.2:c.2937G>C (MYLK) XP_016861958.1:p.Met979Ile
XM_017006470.2:c.2103G>C (MYLK) XP_016861959.1:p.Met701Ile
XM_017006471.2:c.2106G>C (MYLK) XP_016861960.1:p.Met702Ile
XM_017006472.2:c.426G>C (MYLK) XP_016861961.1:p.Met142Ile
XM_017006473.1:c.423G>C (MYLK) XP_016861962.1:p.Met141Ile
XM_024453532.1:c.5736G>C (MYLK) XP_024309300.1:p.Met1912Ile
XM_024453533.1:c.5706G>C (MYLK) XP_024309301.1:p.Met1902Ile
XM_024453534.1:c.5529G>C (MYLK) XP_024309302.1:p.Met1843Ile
XM_024453535.1:c.5499G>C (MYLK) XP_024309303.1:p.Met1833Ile
XM_024453536.1:c.5706G>C (MYLK) XP_024309304.1:p.Met1902Ile
XM_024453537.1:c.5706G>C (MYLK) XP_024309305.1:p.Met1902Ile
NM_001321309.2:c.5178G>C (MYLK) NP_001308238.1:p.Met1726Ile
NM_053025.4:c.5706G>C (MYLK) MANE Select NP_444253.3:p.Met1902Ile
NM_053026.4:c.5499G>C (MYLK) NP_444254.3:p.Met1833Ile
NM_053027.4:c.5553G>C (MYLK) NP_444255.3:p.Met1851Ile
NM_053028.4:c.5346G>C (MYLK) NP_444256.3:p.Met1782Ile
NM_053031.4:c.423G>C (MYLK) NP_444259.1:p.Met141Ile
NM_053032.4:c.426G>C (MYLK) NP_444260.1:p.Met142Ile