Canonical Allele Identifier: CA8622789
Gene: MYL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 476210
dbSNP Id: rs16941677

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47222448A>T , CM000679.2:g.47222448A>T GRCh38
NC_000017.10:g.45299814A>T , CM000679.1:g.45299814A>T GRCh37
NC_000017.9:g.42654813A>T NCBI36
NG_052847.1:g.18432A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354968.5:c.556A>T ENSP00000347055.1:p.Asn186Tyr
ENST00000393450.5:c.556A>T MANE Select ENSP00000377096.1:p.Asn186Tyr
ENST00000536623.6:c.556A>T ENSP00000442375.2:p.Asn186Tyr
ENST00000570671.1:n.267A>T
ENST00000571981.5:c.*342A>T ENSP00000459035.1:p.=
ENST00000572316.5:c.556A>T ENSP00000461570.1:p.Asn186Tyr
ENST00000573747.6:c.*158A>T ENSP00000460734.1:p.=
NM_001002841.1:c.556A>T NP_001002841.1:p.Asn186Tyr
NM_002476.2:c.556A>T MANE Select NP_002467.1:p.Asn186Tyr
XM_005257391.3:c.556A>T XP_005257448.1:p.Asn186Tyr
XM_011524838.1:c.556A>T XP_011523140.1:p.Asn186Tyr
XM_011524839.1:c.346A>T XP_011523141.1:p.Asn116Tyr
XM_005257391.5:c.556A>T XP_005257448.1:p.Asn186Tyr
XM_011524839.2:c.649A>T XP_011523141.2:p.Asn217Tyr
XM_017024683.1:c.649A>T XP_016880172.1:p.Asn217Tyr
XM_024450766.1:c.649A>T XP_024306534.1:p.Asn217Tyr
NM_001002841.2:c.556A>T NP_001002841.1:p.Asn186Tyr