Canonical Allele Identifier: CA392513084
Community Standard Title: NM_001382347.1(MYO5A):c.463C>T (p.Arg155Ter)
Gene: MYO5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52416294G>A , CM000677.2:g.52416294G>A GRCh38
NC_000015.9:g.52708491G>A , CM000677.1:g.52708491G>A GRCh37
NC_000015.8:g.50495783G>A NCBI36
NG_009887.1:g.117757C>T , LRG_86:g.117757C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001382347.1:c.463C>T MANE Select NP_001369276.1:p.Arg155Ter
ENST00000399233.7:c.463C>T MANE Select ENSP00000382179.4:p.Arg155Ter
NM_000259.3:c.463C>T , LRG_86t1:c.463C>T NP_000250.3:p.Arg155Ter
NM_001142495.1:c.463C>T NP_001135967.1:p.Arg155Ter
NM_001142495.2:c.463C>T NP_001135967.2:p.Arg155Ter
NM_001382348.1:c.535C>T NP_001369277.1:p.Arg179Ter
NM_001382349.1:c.535C>T NP_001369278.1:p.Arg179Ter
ENST00000356338.10:c.463C>T ENSP00000348693.6:p.Arg155Ter
ENST00000356338.11:c.463C>T ENSP00000348693.7:p.Arg155Ter
ENST00000358212.10:c.463C>T ENSP00000350945.7:p.Arg155Ter
ENST00000399231.7:c.463C>T ENSP00000382177.3:p.Arg155Ter
ENST00000399231.8:c.463C>T ENSP00000382177.3:p.Arg155Ter
ENST00000399233.6:c.463C>T ENSP00000382179.3:p.Arg155Ter
ENST00000553916.5:c.463C>T ENSP00000451109.1:p.Arg155Ter
ENST00000553916.6:c.463C>T ENSP00000451109.2:p.Arg155Ter
ENST00000556196.5:c.*147C>T ENSP00000451178.1:n.*147C>T
ENST00000556196.6:c.*147C>T ENSP00000451178.1:n.*147C>T
ENST00000561810.1:n.146C>T
ENST00000613858.4:c.463C>T ENSP00000481420.1:p.Arg155Ter
ENST00000685053.1:c.463C>T ENSP00000510081.1:p.Arg155Ter
ENST00000685760.1:c.439C>T ENSP00000510616.1:p.Arg147Ter
ENST00000687574.1:c.463C>T ENSP00000510312.1:p.Arg155Ter
ENST00000687728.1:c.463C>T ENSP00000509083.1:p.Arg155Ter
ENST00000687748.1:c.322C>T ENSP00000509068.1:p.Arg108Ter
ENST00000687968.1:c.436C>T ENSP00000509981.1:p.Arg146Ter
ENST00000689526.1:c.463C>T ENSP00000510068.1:p.Arg155Ter
ENST00000690693.1:c.535C>T ENSP00000509721.1:p.Arg179Ter
ENST00000691028.1:c.463C>T ENSP00000509399.1:p.Arg155Ter
ENST00000692556.1:c.463C>T ENSP00000510378.1:p.Arg155Ter
ENST00000693471.1:c.291C>T ENSP00000509696.1:p.Asn97=
XM_005254397.2:c.463C>T XP_005254454.1:p.Arg155Ter
XM_005254397.4:c.463C>T XP_005254454.1:p.Arg155Ter
XM_005254398.3:c.463C>T XP_005254455.1:p.Arg155Ter
XM_011521606.1:c.469C>T XP_011519908.1:p.Arg157Ter
XM_011521606.2:c.535C>T XP_011519908.2:p.Arg179Ter
XM_011521607.1:c.469C>T XP_011519909.1:p.Arg157Ter
XM_011521607.3:c.535C>T XP_011519909.2:p.Arg179Ter
XM_011521608.1:c.469C>T XP_011519910.1:p.Arg157Ter
XM_011521608.3:c.535C>T XP_011519910.2:p.Arg179Ter
XM_011521609.1:c.469C>T XP_011519911.1:p.Arg157Ter
XM_011521609.3:c.535C>T XP_011519911.2:p.Arg179Ter
XM_011521610.1:c.469C>T XP_011519912.1:p.Arg157Ter
XM_011521610.3:c.535C>T XP_011519912.2:p.Arg179Ter
XM_011521611.1:c.469C>T XP_011519913.1:p.Arg157Ter
XM_011521611.3:c.535C>T XP_011519913.2:p.Arg179Ter
XM_011521612.1:c.469C>T XP_011519914.1:p.Arg157Ter
XM_011521612.3:c.535C>T XP_011519914.2:p.Arg179Ter
XM_017022227.2:c.535C>T XP_016877716.1:p.Arg179Ter