Canonical Allele Identifier: CA071037

Gene: MYLK

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123657230A>G , CM000665.2:g.123657230A>G	GRCh38
NC_000003.11:g.123376077A>G , CM000665.1:g.123376077A>G	GRCh37
NC_000003.10:g.124858767A>G	NCBI36
NG_029111.1:g.232073T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.3977T>C	ENSP00000320622.6:p.Leu1326Pro
ENST00000508240.2:c.584T>C	ENSP00000422984.2:p.Leu195Pro
ENST00000513111.2:n.314T>C
ENST00000684879.1:n.1816T>C
ENST00000685021.1:c.1418T>C	ENSP00000508447.1:p.Leu473Pro
ENST00000685259.1:c.1722T>C
ENST00000685907.1:n.1965T>C
ENST00000685953.1:c.584T>C	ENSP00000510593.1:p.Leu195Pro
ENST00000686039.1:c.1568T>C
ENST00000686245.1:c.1301T>C	ENSP00000509313.1:p.Leu434Pro
ENST00000686406.1:c.4184T>C	ENSP00000509044.1:p.Leu1395Pro
ENST00000686458.1:n.686T>C
ENST00000686761.1:c.4184T>C	ENSP00000508758.1:p.Leu1395Pro
ENST00000686822.1:n.4078T>C
ENST00000687434.1:c.*400T>C	ENSP00000509751.1:n.*400T>C
ENST00000687709.1:n.2239T>C
ENST00000687848.1:c.4214T>C	ENSP00000508761.1:p.Leu1405Pro
ENST00000688024.1:c.1418T>C	ENSP00000509803.1:p.Leu473Pro
ENST00000688223.1:c.1418T>C	ENSP00000508935.1:p.Leu473Pro
ENST00000689868.1:n.1912T>C
ENST00000689918.1:n.259T>C
ENST00000689957.1:n.733T>C
ENST00000690086.1:n.285T>C
ENST00000690167.1:n.1855T>C
ENST00000690176.1:n.449T>C
ENST00000690457.1:c.3422T>C	ENSP00000508777.1:p.Leu1141Pro
ENST00000690534.1:n.705T>C
ENST00000691933.1:c.1722T>C
ENST00000692352.1:c.1722T>C
ENST00000693689.1:c.3977T>C	ENSP00000510503.1:p.Leu1326Pro
ENST00000360304.8:c.4184T>C MANE Select	ENSP00000353452.3:p.Leu1395Pro
ENST00000346322.9:c.3977T>C	ENSP00000320622.5:p.Leu1326Pro
ENST00000354792.9:c.3977T>C	ENSP00000346846.6:p.Leu1326Pro
ENST00000359169.5:c.4184T>C	ENSP00000352088.1:p.Leu1395Pro
ENST00000360304.7:c.4184T>C	ENSP00000353452.3:p.Leu1395Pro
ENST00000360772.7:c.4184T>C	ENSP00000354004.3:p.Leu1395Pro
ENST00000464489.5:c.*3763T>C	ENSP00000417798.1:n.*3763T>C
ENST00000475616.5:c.4184T>C	ENSP00000418335.1:p.Leu1395Pro
ENST00000508240.1:c.584T>C	ENSP00000422984.1:p.Leu195Pro
NM_053025.3:c.4184T>C	NP_444253.3:p.Leu1395Pro
NM_053026.3:c.3977T>C	NP_444254.3:p.Leu1326Pro
NM_053027.3:c.4184T>C	NP_444255.3:p.Leu1395Pro
NM_053028.3:c.3977T>C	NP_444256.3:p.Leu1326Pro
XM_011512860.1:c.4184T>C	XP_011511162.1:p.Leu1395Pro
XM_011512861.1:c.4184T>C	XP_011511163.1:p.Leu1395Pro
XM_011512862.1:c.3656T>C	XP_011511164.1:p.Leu1219Pro
NM_001321309.1:c.3656T>C	NP_001308238.1:p.Leu1219Pro
XM_011512860.3:c.4214T>C	XP_011511162.2:p.Leu1405Pro
XM_011512861.3:c.4214T>C	XP_011511163.2:p.Leu1405Pro
XM_017006469.2:c.1418T>C	XP_016861958.1:p.Leu473Pro
XM_017006470.2:c.584T>C	XP_016861959.1:p.Leu195Pro
XM_017006471.2:c.584T>C	XP_016861960.1:p.Leu195Pro
XM_024453532.1:c.4214T>C	XP_024309300.1:p.Leu1405Pro
XM_024453533.1:c.4184T>C	XP_024309301.1:p.Leu1395Pro
XM_024453534.1:c.4007T>C	XP_024309302.1:p.Leu1336Pro
XM_024453535.1:c.3977T>C	XP_024309303.1:p.Leu1326Pro
XM_024453536.1:c.4184T>C	XP_024309304.1:p.Leu1395Pro
XM_024453537.1:c.4184T>C	XP_024309305.1:p.Leu1395Pro
NM_001321309.2:c.3656T>C	NP_001308238.1:p.Leu1219Pro
NM_053025.4:c.4184T>C MANE Select	NP_444253.3:p.Leu1395Pro
NM_053026.4:c.3977T>C	NP_444254.3:p.Leu1326Pro
NM_053027.4:c.4184T>C	NP_444255.3:p.Leu1395Pro
NM_053028.4:c.3977T>C	NP_444256.3:p.Leu1326Pro