Canonical Allele Identifier: CA354226952

Gene: MYLK

Linked Data

• ClinVar Variation Id: 2577622
• ClinVar RCV Id: RCV003324959
• MyVariant Identifiers: chr3:g.123366078G>T (hg19) ; chr3:g.123647231G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123647231G>T , CM000665.2:g.123647231G>T	GRCh38
NC_000003.11:g.123366078G>T , CM000665.1:g.123366078G>T	GRCh37
NC_000003.10:g.124848768G>T	NCBI36
NG_029111.1:g.242072C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.4405C>A	ENSP00000320622.6:p.Leu1469Met
ENST00000508240.2:c.1012C>A	ENSP00000422984.2:p.Leu338Met
ENST00000513111.2:n.742C>A
ENST00000684879.1:n.2244C>A
ENST00000685021.1:c.1846C>A	ENSP00000508447.1:p.Leu616Met
ENST00000685259.1:c.2131C>A
ENST00000685907.1:n.2393C>A
ENST00000685953.1:c.1012C>A	ENSP00000510593.1:p.Leu338Met
ENST00000686039.1:c.1996C>A
ENST00000686245.1:c.1729C>A	ENSP00000509313.1:p.Leu577Met
ENST00000686406.1:c.4612C>A	ENSP00000509044.1:p.Leu1538Met
ENST00000686458.1:n.1114C>A
ENST00000686761.1:c.4612C>A	ENSP00000508758.1:p.Leu1538Met
ENST00000686822.1:n.4506C>A
ENST00000687434.1:c.*828C>A	ENSP00000509751.1:n.*828C>A
ENST00000687709.1:n.2667C>A
ENST00000687848.1:c.4642C>A	ENSP00000508761.1:p.Leu1548Met
ENST00000688024.1:c.1846C>A	ENSP00000509803.1:p.Leu616Met
ENST00000688223.1:c.1649+1740C>A	ENSP00000508935.1:n.1649+1740C>A
ENST00000689868.1:n.2340C>A
ENST00000689918.1:n.687C>A
ENST00000690086.1:n.713C>A
ENST00000690167.1:n.2283C>A
ENST00000690457.1:c.3850C>A	ENSP00000508777.1:p.Leu1284Met
ENST00000690534.1:n.1133C>A
ENST00000691933.1:c.2236C>A
ENST00000692352.1:c.2150C>A
ENST00000693689.1:c.4405C>A	ENSP00000510503.1:p.Leu1469Met
ENST00000360304.8:c.4612C>A MANE Select	ENSP00000353452.3:p.Leu1538Met
ENST00000346322.9:c.4405C>A	ENSP00000320622.5:p.Leu1469Met
ENST00000354792.9:c.4405C>A	ENSP00000346846.6:p.Leu1469Met
ENST00000359169.5:c.4612C>A	ENSP00000352088.1:p.Leu1538Met
ENST00000360304.7:c.4612C>A	ENSP00000353452.3:p.Leu1538Met
ENST00000360772.7:c.4612C>A	ENSP00000354004.3:p.Leu1538Met
ENST00000464489.5:c.*4191C>A	ENSP00000417798.1:n.*4191C>A
ENST00000475616.5:c.4612C>A	ENSP00000418335.1:p.Leu1538Met
ENST00000513111.1:n.324C>A
ENST00000514895.5:n.94+1740C>A
NM_053025.3:c.4612C>A	NP_444253.3:p.Leu1538Met
NM_053026.3:c.4405C>A	NP_444254.3:p.Leu1469Met
NM_053027.3:c.4612C>A	NP_444255.3:p.Leu1538Met
NM_053028.3:c.4405C>A	NP_444256.3:p.Leu1469Met
XM_011512860.1:c.4612C>A	XP_011511162.1:p.Leu1538Met
XM_011512861.1:c.4415+1740C>A	XP_011511163.1:n.4415+1740C>A
XM_011512862.1:c.4084C>A	XP_011511164.1:p.Leu1362Met
NM_001321309.1:c.4084C>A	NP_001308238.1:p.Leu1362Met
XM_011512860.3:c.4642C>A	XP_011511162.2:p.Leu1548Met
XM_011512861.3:c.4445+1740C>A	XP_011511163.2:n.4445+1740C>A
XM_017006469.2:c.1846C>A	XP_016861958.1:p.Leu616Met
XM_017006470.2:c.1012C>A	XP_016861959.1:p.Leu338Met
XM_017006471.2:c.1012C>A	XP_016861960.1:p.Leu338Met
XM_024453532.1:c.4642C>A	XP_024309300.1:p.Leu1548Met
XM_024453533.1:c.4612C>A	XP_024309301.1:p.Leu1538Met
XM_024453534.1:c.4435C>A	XP_024309302.1:p.Leu1479Met
XM_024453535.1:c.4405C>A	XP_024309303.1:p.Leu1469Met
XM_024453536.1:c.4612C>A	XP_024309304.1:p.Leu1538Met
XM_024453537.1:c.4612C>A	XP_024309305.1:p.Leu1538Met
NM_001321309.2:c.4084C>A	NP_001308238.1:p.Leu1362Met
NM_053025.4:c.4612C>A MANE Select	NP_444253.3:p.Leu1538Met
NM_053026.4:c.4405C>A	NP_444254.3:p.Leu1469Met
NM_053027.4:c.4612C>A	NP_444255.3:p.Leu1538Met
NM_053028.4:c.4405C>A	NP_444256.3:p.Leu1469Met