Canonical Allele Identifier: CA400022322
Gene: MYL4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47221757G>T , CM000679.2:g.47221757G>T GRCh38
NC_000017.10:g.45299123G>T , CM000679.1:g.45299123G>T GRCh37
NC_000017.9:g.42654122G>T NCBI36
NG_052847.1:g.17741G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354968.5:c.389G>T ENSP00000347055.1:p.Gly130Val
ENST00000393450.5:c.389G>T MANE Select ENSP00000377096.1:p.Gly130Val
ENST00000536623.6:c.389G>T ENSP00000442375.2:p.Gly130Val
ENST00000570671.1:c.100G>T
ENST00000570772.5:c.*175G>T ENSP00000458194.1:n.*175G>T
ENST00000571981.5:c.*175G>T ENSP00000459035.1:n.*175G>T
ENST00000572303.1:c.482G>T ENSP00000461747.1:p.Gly161Val
ENST00000572316.5:c.389G>T ENSP00000461570.1:p.Gly130Val
ENST00000573747.6:c.339G>T ENSP00000460734.1:p.Gly113=
ENST00000576874.5:c.389G>T ENSP00000458907.1:p.Gly130Val
NM_001002841.1:c.389G>T NP_001002841.1:p.Gly130Val
NM_002476.2:c.389G>T MANE Select NP_002467.1:p.Gly130Val
XM_005257391.3:c.389G>T XP_005257448.1:p.Gly130Val
XM_011524838.1:c.389G>T XP_011523140.1:p.Gly130Val
XM_011524839.1:c.179G>T XP_011523141.1:p.Gly60Val
XM_005257391.5:c.389G>T XP_005257448.1:p.Gly130Val
XM_011524839.2:c.482G>T XP_011523141.2:p.Gly161Val
XM_017024683.1:c.482G>T XP_016880172.1:p.Gly161Val
XM_024450766.1:c.482G>T XP_024306534.1:p.Gly161Val
NM_001002841.2:c.389G>T NP_001002841.1:p.Gly130Val