Canonical Allele Identifier: CA400022281
Gene: MYL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2709227
ClinVar RCV Id: RCV003592650
dbSNP Id: rs1567749846

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47221739C>T , CM000679.2:g.47221739C>T GRCh38
NC_000017.10:g.45299105C>T , CM000679.1:g.45299105C>T GRCh37
NC_000017.9:g.42654104C>T NCBI36
NG_052847.1:g.17723C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354968.5:c.371C>T ENSP00000347055.1:p.Ser124Phe
ENST00000393450.5:c.371C>T MANE Select ENSP00000377096.1:p.Ser124Phe
ENST00000536623.6:c.371C>T ENSP00000442375.2:p.Ser124Phe
ENST00000570671.1:c.82C>T
ENST00000570772.5:c.*157C>T ENSP00000458194.1:n.*157C>T
ENST00000571981.5:c.*157C>T ENSP00000459035.1:n.*157C>T
ENST00000572303.1:c.464C>T ENSP00000461747.1:p.Ser155Phe
ENST00000572316.5:c.371C>T ENSP00000461570.1:p.Ser124Phe
ENST00000573747.6:c.321C>T ENSP00000460734.1:p.Phe107=
ENST00000576874.5:c.371C>T ENSP00000458907.1:p.Ser124Phe
NM_001002841.1:c.371C>T NP_001002841.1:p.Ser124Phe
NM_002476.2:c.371C>T MANE Select NP_002467.1:p.Ser124Phe
XM_005257391.3:c.371C>T XP_005257448.1:p.Ser124Phe
XM_011524838.1:c.371C>T XP_011523140.1:p.Ser124Phe
XM_011524839.1:c.161C>T XP_011523141.1:p.Ser54Phe
XM_005257391.5:c.371C>T XP_005257448.1:p.Ser124Phe
XM_011524839.2:c.464C>T XP_011523141.2:p.Ser155Phe
XM_017024683.1:c.464C>T XP_016880172.1:p.Ser155Phe
XM_024450766.1:c.464C>T XP_024306534.1:p.Ser155Phe
NM_001002841.2:c.371C>T NP_001002841.1:p.Ser124Phe