Canonical Allele Identifier: CA7568730
Community Standard Title: NM_001382347.1(MYO5A):c.2332C>T (p.Arg778Ter)
Gene: MYO5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52376435G>A , CM000677.2:g.52376435G>A GRCh38
NC_000015.9:g.52668632G>A , CM000677.1:g.52668632G>A GRCh37
NC_000015.8:g.50455924G>A NCBI36
NG_009887.1:g.157616C>T , LRG_86:g.157616C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001382347.1:c.2332C>T MANE Select NP_001369276.1:p.Arg778Ter
ENST00000399233.7:c.2332C>T MANE Select ENSP00000382179.4:p.Arg778Ter
NM_000259.3:c.2332C>T , LRG_86t1:c.2332C>T NP_000250.3:p.Arg778Ter
NM_001142495.1:c.2332C>T NP_001135967.1:p.Arg778Ter
NM_001142495.2:c.2332C>T NP_001135967.2:p.Arg778Ter
NM_001382348.1:c.2404C>T NP_001369277.1:p.Arg802Ter
NM_001382349.1:c.2404C>T NP_001369278.1:p.Arg802Ter
ENST00000356338.10:c.2332C>T ENSP00000348693.6:p.Arg778Ter
ENST00000356338.11:c.2332C>T ENSP00000348693.7:p.Arg778Ter
ENST00000358212.10:c.2332C>T ENSP00000350945.7:p.Arg778Ter
ENST00000399231.7:c.2332C>T ENSP00000382177.3:p.Arg778Ter
ENST00000399231.8:c.2332C>T ENSP00000382177.3:p.Arg778Ter
ENST00000399233.6:c.2332C>T ENSP00000382179.3:p.Arg778Ter
ENST00000553916.5:c.2332C>T ENSP00000451109.1:p.Arg778Ter
ENST00000553916.6:c.2224C>T ENSP00000451109.2:p.Arg742Ter
ENST00000556196.5:c.*2016C>T ENSP00000451178.1:n.*2016C>T
ENST00000556196.6:c.*2016C>T ENSP00000451178.1:n.*2016C>T
ENST00000613858.4:c.2332C>T ENSP00000481420.1:p.Arg778Ter
ENST00000685053.1:c.2332C>T ENSP00000510081.1:p.Arg778Ter
ENST00000685194.1:c.-33C>T ENSP00000509314.1:n.-33C>T
ENST00000685996.1:c.124C>T ENSP00000509305.1:p.Arg42Ter
ENST00000686796.1:n.1193C>T
ENST00000687574.1:c.2332C>T ENSP00000510312.1:p.Arg778Ter
ENST00000688010.1:n.2080C>T
ENST00000688074.1:c.-33C>T ENSP00000509404.1:n.-33C>T
ENST00000688792.1:n.475C>T
ENST00000688841.1:c.124C>T ENSP00000508514.1:p.Arg42Ter
ENST00000689601.1:n.1356C>T
ENST00000689897.1:c.124C>T ENSP00000509082.1:p.Arg42Ter
ENST00000691073.1:n.812C>T
ENST00000691448.1:c.124C>T ENSP00000508899.1:p.Arg42Ter
ENST00000692324.1:c.478C>T
ENST00000692556.1:c.2332C>T ENSP00000510378.1:p.Arg778Ter
ENST00000692646.1:c.-33C>T ENSP00000510243.1:n.-33C>T
XM_005254397.2:c.2332C>T XP_005254454.1:p.Arg778Ter
XM_005254397.4:c.2332C>T XP_005254454.1:p.Arg778Ter
XM_005254398.3:c.2332C>T XP_005254455.1:p.Arg778Ter
XM_011521606.1:c.2338C>T XP_011519908.1:p.Arg780Ter
XM_011521606.2:c.2404C>T XP_011519908.2:p.Arg802Ter
XM_011521607.1:c.2338C>T XP_011519909.1:p.Arg780Ter
XM_011521607.3:c.2404C>T XP_011519909.2:p.Arg802Ter
XM_011521608.1:c.2338C>T XP_011519910.1:p.Arg780Ter
XM_011521608.3:c.2404C>T XP_011519910.2:p.Arg802Ter
XM_011521609.1:c.2338C>T XP_011519911.1:p.Arg780Ter
XM_011521609.3:c.2404C>T XP_011519911.2:p.Arg802Ter
XM_011521610.1:c.2338C>T XP_011519912.1:p.Arg780Ter
XM_011521610.3:c.2404C>T XP_011519912.2:p.Arg802Ter
XM_011521611.1:c.2338C>T XP_011519913.1:p.Arg780Ter
XM_011521611.3:c.2404C>T XP_011519913.2:p.Arg802Ter
XM_011521612.1:c.2338C>T XP_011519914.1:p.Arg780Ter
XM_011521612.3:c.2404C>T XP_011519914.2:p.Arg802Ter
XM_017022227.2:c.2296C>T XP_016877716.1:p.Arg766Ter