Canonical Allele Identifier: CA546174402
Community Standard Title: NM_053025.4(MYLK):c.774-18A>C
Gene: MYLK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123734240T>G , CM000665.2:g.123734240T>G GRCh38
NC_000003.11:g.123453087T>G , CM000665.1:g.123453087T>G GRCh37
NC_000003.10:g.124935777T>G NCBI36
NG_029111.1:g.155063A>C

Transcript Alleles

HGVS Amino-acid Change
NM_053025.4:c.774-18A>C MANE Select NP_444253.3:n.774-18A>C
ENST00000360304.8:c.774-18A>C MANE Select ENSP00000353452.3:n.774-18A>C
NM_001321309.1:c.246-18A>C NP_001308238.1:n.246-18A>C
NM_001321309.2:c.246-18A>C NP_001308238.1:n.246-18A>C
NM_053025.3:c.774-18A>C NP_444253.3:n.774-18A>C
NM_053026.3:c.774-18A>C NP_444254.3:n.774-18A>C
NM_053026.4:c.774-18A>C NP_444254.3:n.774-18A>C
NM_053027.3:c.774-18A>C NP_444255.3:n.774-18A>C
NM_053027.4:c.774-18A>C NP_444255.3:n.774-18A>C
NM_053028.3:c.774-18A>C NP_444256.3:n.774-18A>C
NM_053028.4:c.774-18A>C NP_444256.3:n.774-18A>C
ENST00000346322.10:c.774-18A>C ENSP00000320622.6:n.774-18A>C
ENST00000346322.9:c.774-18A>C ENSP00000320622.5:n.774-18A>C
ENST00000354792.9:c.774-18A>C ENSP00000346846.6:n.774-18A>C
ENST00000359169.5:c.774-18A>C ENSP00000352088.1:n.774-18A>C
ENST00000360304.7:c.774-18A>C ENSP00000353452.3:n.774-18A>C
ENST00000360772.7:c.774-18A>C ENSP00000354004.3:n.774-18A>C
ENST00000464489.5:c.*353-18A>C ENSP00000417798.1:n.*353-18A>C
ENST00000475616.5:c.774-18A>C ENSP00000418335.1:n.774-18A>C
ENST00000514623.1:n.1531A>C
ENST00000686406.1:c.774-18A>C ENSP00000509044.1:n.774-18A>C
ENST00000686761.1:c.774-18A>C ENSP00000508758.1:n.774-18A>C
ENST00000686822.1:n.875-18A>C
ENST00000687848.1:c.804-18A>C ENSP00000508761.1:n.804-18A>C
ENST00000690457.1:c.754+3138A>C ENSP00000508777.1:n.754+3138A>C
ENST00000693689.1:c.774-18A>C ENSP00000510503.1:n.774-18A>C
XM_011512860.1:c.774-18A>C XP_011511162.1:n.774-18A>C
XM_011512860.3:c.804-18A>C XP_011511162.2:n.804-18A>C
XM_011512861.1:c.774-18A>C XP_011511163.1:n.774-18A>C
XM_011512861.3:c.804-18A>C XP_011511163.2:n.804-18A>C
XM_011512862.1:c.246-18A>C XP_011511164.1:n.246-18A>C
XM_024453532.1:c.804-18A>C XP_024309300.1:n.804-18A>C
XM_024453533.1:c.774-18A>C XP_024309301.1:n.774-18A>C
XM_024453534.1:c.804-18A>C XP_024309302.1:n.804-18A>C
XM_024453535.1:c.774-18A>C XP_024309303.1:n.774-18A>C
XM_024453536.1:c.774-18A>C XP_024309304.1:n.774-18A>C
XM_024453537.1:c.774-18A>C XP_024309305.1:n.774-18A>C