Canonical Allele Identifier: CA400022255
Gene: MYL4 HGNC NCBI

Linked Data

dbSNP Id: rs2064857234

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47221727T>C , CM000679.2:g.47221727T>C GRCh38
NC_000017.10:g.45299093T>C , CM000679.1:g.45299093T>C GRCh37
NC_000017.9:g.42654092T>C NCBI36
NG_052847.1:g.17711T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354968.5:c.359T>C ENSP00000347055.1:p.Leu120Pro
ENST00000393450.5:c.359T>C MANE Select ENSP00000377096.1:p.Leu120Pro
ENST00000536623.6:c.359T>C ENSP00000442375.2:p.Leu120Pro
ENST00000570671.1:c.70T>C
ENST00000570772.5:c.*145T>C ENSP00000458194.1:n.*145T>C
ENST00000571981.5:c.*145T>C ENSP00000459035.1:n.*145T>C
ENST00000572303.1:c.452T>C ENSP00000461747.1:p.Leu151Pro
ENST00000572316.5:c.359T>C ENSP00000461570.1:p.Leu120Pro
ENST00000573747.6:c.314-5T>C ENSP00000460734.1:n.314-5T>C
ENST00000576874.5:c.359T>C ENSP00000458907.1:p.Leu120Pro
NM_001002841.1:c.359T>C NP_001002841.1:p.Leu120Pro
NM_002476.2:c.359T>C MANE Select NP_002467.1:p.Leu120Pro
XM_005257391.3:c.359T>C XP_005257448.1:p.Leu120Pro
XM_011524838.1:c.359T>C XP_011523140.1:p.Leu120Pro
XM_011524839.1:c.149T>C XP_011523141.1:p.Leu50Pro
XM_005257391.5:c.359T>C XP_005257448.1:p.Leu120Pro
XM_011524839.2:c.452T>C XP_011523141.2:p.Leu151Pro
XM_017024683.1:c.452T>C XP_016880172.1:p.Leu151Pro
XM_024450766.1:c.452T>C XP_024306534.1:p.Leu151Pro
NM_001002841.2:c.359T>C NP_001002841.1:p.Leu120Pro