Canonical Allele Identifier: CA072794
Community Standard Title: NM_053025.4(MYLK):c.5339C>T (p.Pro1780Leu)
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123620236G>A , CM000665.2:g.123620236G>A GRCh38
NC_000003.11:g.123339083G>A , CM000665.1:g.123339083G>A GRCh37
NC_000003.10:g.124821773G>A NCBI36
NG_029111.1:g.269067C>T

Transcript Alleles

HGVS Amino-acid Change
NM_053025.4:c.5339C>T (MYLK) MANE Select NP_444253.3:p.Pro1780Leu
ENST00000360304.8:c.5339C>T (MYLK) MANE Select ENSP00000353452.3:p.Pro1780Leu
NM_001321309.1:c.4811C>T (MYLK) NP_001308238.1:p.Pro1604Leu
NM_001321309.2:c.4811C>T (MYLK) NP_001308238.1:p.Pro1604Leu
NM_053025.3:c.5339C>T (MYLK) NP_444253.3:p.Pro1780Leu
NM_053026.3:c.5132C>T (MYLK) NP_444254.3:p.Pro1711Leu
NM_053026.4:c.5132C>T (MYLK) NP_444254.3:p.Pro1711Leu
NM_053027.3:c.5186C>T (MYLK) NP_444255.3:p.Pro1729Leu
NM_053027.4:c.5186C>T (MYLK) NP_444255.3:p.Pro1729Leu
NM_053028.3:c.4979C>T (MYLK) NP_444256.3:p.Pro1660Leu
NM_053028.4:c.4979C>T (MYLK) NP_444256.3:p.Pro1660Leu
NM_053031.2:c.59C>T (MYLK) NP_444259.1:p.Pro20Leu
NM_053031.3:c.59C>T (MYLK) NP_444259.1:p.Pro20Leu
NM_053031.4:c.59C>T (MYLK) NP_444259.1:p.Pro20Leu
NM_053032.2:c.59C>T (MYLK) NP_444260.1:p.Pro20Leu
NM_053032.3:c.59C>T (MYLK) NP_444260.1:p.Pro20Leu
NM_053032.4:c.59C>T (MYLK) NP_444260.1:p.Pro20Leu
NR_038266.2:n.290-9258G>A (MYLK-AS1)
NR_121654.1:n.197-9258G>A (MYLK-AS1)
ENST00000346322.10:c.4979C>T (MYLK) ENSP00000320622.6:p.Pro1660Leu
ENST00000346322.9:c.5132C>T (MYLK) ENSP00000320622.5:p.Pro1711Leu
ENST00000354792.9:c.5132C>T (MYLK) ENSP00000346846.6:p.Pro1711Leu
ENST00000359169.5:c.5186C>T (MYLK) ENSP00000352088.1:p.Pro1729Leu
ENST00000360304.7:c.5339C>T (MYLK) ENSP00000353452.3:p.Pro1780Leu
ENST00000360772.7:c.5186C>T (MYLK) ENSP00000354004.3:p.Pro1729Leu
ENST00000418370.6:c.59C>T (MYLK) ENSP00000428967.1:p.Pro20Leu
ENST00000464489.5:c.*4918C>T (MYLK) ENSP00000417798.1:n.*4918C>T
ENST00000475616.5:c.5339C>T (MYLK) ENSP00000418335.1:p.Pro1780Leu
ENST00000508240.2:c.1739C>T (MYLK) ENSP00000422984.2:p.Pro580Leu
ENST00000515434.1:n.3843C>T (MYLK)
ENST00000578202.1:c.59C>T (MYLK) ENSP00000463691.1:p.Pro20Leu
ENST00000578202.2:c.59C>T (MYLK) ENSP00000463691.2:p.Pro20Leu
ENST00000583087.5:c.59C>T (MYLK) ENSP00000462118.1:p.Pro20Leu
ENST00000583087.6:c.59C>T (MYLK) ENSP00000462118.1:p.Pro20Leu
ENST00000684879.1:n.2971C>T (MYLK)
ENST00000684882.1:c.59C>T (MYLK) ENSP00000510459.1:p.Pro20Leu
ENST00000685021.1:c.2573C>T (MYLK) ENSP00000508447.1:p.Pro858Leu
ENST00000685170.1:n.552C>T (MYLK)
ENST00000685259.1:c.2858C>T (MYLK)
ENST00000685665.1:c.59C>T (MYLK) ENSP00000509561.1:p.Pro20Leu
ENST00000685744.1:c.59C>T (MYLK) ENSP00000510047.1:p.Pro20Leu
ENST00000685907.1:n.3120C>T (MYLK)
ENST00000685953.1:c.1739C>T (MYLK) ENSP00000510593.1:p.Pro580Leu
ENST00000686039.1:c.2723C>T (MYLK)
ENST00000686245.1:c.2456C>T (MYLK) ENSP00000509313.1:p.Pro819Leu
ENST00000686281.1:n.631C>T (MYLK)
ENST00000686406.1:c.5339C>T (MYLK) ENSP00000509044.1:p.Pro1780Leu
ENST00000686458.1:n.1841C>T (MYLK)
ENST00000686761.1:c.5339C>T (MYLK) ENSP00000508758.1:p.Pro1780Leu
ENST00000687375.1:c.59C>T (MYLK) ENSP00000509867.1:p.Pro20Leu
ENST00000687434.1:c.*1555C>T (MYLK) ENSP00000509751.1:n.*1555C>T
ENST00000687709.1:n.3394C>T (MYLK)
ENST00000687848.1:c.5369C>T (MYLK) ENSP00000508761.1:p.Pro1790Leu
ENST00000688024.1:c.2573C>T (MYLK) ENSP00000509803.1:p.Pro858Leu
ENST00000688223.1:c.2369C>T (MYLK) ENSP00000508935.1:p.Pro790Leu
ENST00000689446.1:n.544C>T (MYLK)
ENST00000689868.1:n.5599C>T (MYLK)
ENST00000689918.1:n.1414C>T (MYLK)
ENST00000690086.1:n.1440C>T (MYLK)
ENST00000690167.1:n.3010C>T (MYLK)
ENST00000690457.1:c.4577C>T (MYLK) ENSP00000508777.1:p.Pro1526Leu
ENST00000690534.1:n.1860C>T (MYLK)
ENST00000691933.1:c.2963C>T (MYLK)
ENST00000692356.1:c.59C>T (MYLK) ENSP00000509805.1:p.Pro20Leu
ENST00000693689.1:c.5132C>T (MYLK) ENSP00000510503.1:p.Pro1711Leu
XM_011512860.1:c.5339C>T (MYLK) XP_011511162.1:p.Pro1780Leu
XM_011512860.3:c.5369C>T (MYLK) XP_011511162.2:p.Pro1790Leu
XM_011512861.1:c.5135C>T (MYLK) XP_011511163.1:p.Pro1712Leu
XM_011512861.3:c.5165C>T (MYLK) XP_011511163.2:p.Pro1722Leu
XM_011512862.1:c.4811C>T (MYLK) XP_011511164.1:p.Pro1604Leu
XM_017006469.2:c.2573C>T (MYLK) XP_016861958.1:p.Pro858Leu
XM_017006470.2:c.1739C>T (MYLK) XP_016861959.1:p.Pro580Leu
XM_017006471.2:c.1739C>T (MYLK) XP_016861960.1:p.Pro580Leu
XM_017006472.2:c.59C>T (MYLK) XP_016861961.1:p.Pro20Leu
XM_017006473.1:c.59C>T (MYLK) XP_016861962.1:p.Pro20Leu
XM_024453532.1:c.5369C>T (MYLK) XP_024309300.1:p.Pro1790Leu
XM_024453533.1:c.5339C>T (MYLK) XP_024309301.1:p.Pro1780Leu
XM_024453534.1:c.5162C>T (MYLK) XP_024309302.1:p.Pro1721Leu
XM_024453535.1:c.5132C>T (MYLK) XP_024309303.1:p.Pro1711Leu
XM_024453536.1:c.5339C>T (MYLK) XP_024309304.1:p.Pro1780Leu
XM_024453537.1:c.5339C>T (MYLK) XP_024309305.1:p.Pro1780Leu