Canonical Allele Identifier: CA067073

Gene: MYLK

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123732999G>C , CM000665.2:g.123732999G>C	GRCh38
NC_000003.11:g.123451846G>C , CM000665.1:g.123451846G>C	GRCh37
NC_000003.10:g.124934536G>C	NCBI36
NG_029111.1:g.156304C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.1309+688C>G	ENSP00000320622.6:n.1309+688C>G
ENST00000686406.1:c.1413C>G	ENSP00000509044.1:p.Tyr471Ter
ENST00000686761.1:c.1413C>G	ENSP00000508758.1:p.Tyr471Ter
ENST00000686822.1:n.1410+688C>G
ENST00000687848.1:c.1443C>G	ENSP00000508761.1:p.Tyr481Ter
ENST00000690457.1:c.754+4379C>G	ENSP00000508777.1:n.754+4379C>G
ENST00000693689.1:c.1309+688C>G	ENSP00000510503.1:n.1309+688C>G
ENST00000360304.8:c.1413C>G MANE Select	ENSP00000353452.3:p.Tyr471Ter
ENST00000346322.9:c.1309+688C>G	ENSP00000320622.5:n.1309+688C>G
ENST00000354792.9:c.1309+688C>G	ENSP00000346846.6:n.1309+688C>G
ENST00000359169.5:c.1413C>G	ENSP00000352088.1:p.Tyr471Ter
ENST00000360304.7:c.1413C>G	ENSP00000353452.3:p.Tyr471Ter
ENST00000360772.7:c.1413C>G	ENSP00000354004.3:p.Tyr471Ter
ENST00000464489.5:c.*992C>G	ENSP00000417798.1:n.*992C>G
ENST00000475616.5:c.1413C>G	ENSP00000418335.1:p.Tyr471Ter
ENST00000514623.1:n.2084+688C>G
NM_053025.3:c.1413C>G	NP_444253.3:p.Tyr471Ter
NM_053026.3:c.1309+688C>G	NP_444254.3:n.1309+688C>G
NM_053027.3:c.1413C>G	NP_444255.3:p.Tyr471Ter
NM_053028.3:c.1309+688C>G	NP_444256.3:n.1309+688C>G
XM_011512860.1:c.1413C>G	XP_011511162.1:p.Tyr471Ter
XM_011512861.1:c.1413C>G	XP_011511163.1:p.Tyr471Ter
XM_011512862.1:c.885C>G	XP_011511164.1:p.Tyr295Ter
NM_001321309.1:c.885C>G	NP_001308238.1:p.Tyr295Ter
XM_011512860.3:c.1443C>G	XP_011511162.2:p.Tyr481Ter
XM_011512861.3:c.1443C>G	XP_011511163.2:p.Tyr481Ter
XM_024453532.1:c.1443C>G	XP_024309300.1:p.Tyr481Ter
XM_024453533.1:c.1413C>G	XP_024309301.1:p.Tyr471Ter
XM_024453534.1:c.1339+688C>G	XP_024309302.1:n.1339+688C>G
XM_024453535.1:c.1309+688C>G	XP_024309303.1:n.1309+688C>G
XM_024453536.1:c.1413C>G	XP_024309304.1:p.Tyr471Ter
XM_024453537.1:c.1413C>G	XP_024309305.1:p.Tyr471Ter
NM_001321309.2:c.885C>G	NP_001308238.1:p.Tyr295Ter
NM_053025.4:c.1413C>G MANE Select	NP_444253.3:p.Tyr471Ter
NM_053026.4:c.1309+688C>G	NP_444254.3:n.1309+688C>G
NM_053027.4:c.1413C>G	NP_444255.3:p.Tyr471Ter
NM_053028.4:c.1309+688C>G	NP_444256.3:n.1309+688C>G