Canonical Allele Identifier: CA056681
Community Standard Title: NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38534774C>T , CM000681.2:g.38534774C>T GRCh38
NC_000019.9:g.39025414C>T , CM000681.1:g.39025414C>T GRCh37
NC_000019.8:g.43717254C>T NCBI36
NG_008866.1:g.106075C>T , LRG_766:g.106075C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.11314C>T MANE Select NP_000531.2:p.Arg3772Trp
ENST00000359596.8:c.11314C>T MANE Select ENSP00000352608.2:p.Arg3772Trp
NM_000540.2:c.11314C>T , LRG_766t1:c.11314C>T NP_000531.2:p.Arg3772Trp
NM_001042723.1:c.11299C>T NP_001036188.1:p.Arg3767Trp
NM_001042723.2:c.11299C>T NP_001036188.1:p.Arg3767Trp
ENST00000355481.8:c.11299C>T ENSP00000347667.3:p.Arg3767Trp
ENST00000359596.7:c.11314C>T ENSP00000352608.2:p.Arg3772Trp
ENST00000360985.7:c.11296C>T ENSP00000354254.4:p.Arg3766Trp
ENST00000593322.1:c.15C>T
ENST00000594335.5:c.4701C>T
ENST00000596431.5:c.43C>T ENSP00000470848.1:p.Arg15Trp
ENST00000599547.5:c.2121C>T
ENST00000599547.6:c.11253C>T ENSP00000471601.2:n.11253C>T
ENST00000601514.5:c.595C>T ENSP00000472497.1:p.Arg199Trp
XM_006723317.1:c.11314C>T XP_006723380.1:p.Arg3772Trp
XM_006723317.2:c.11314C>T XP_006723380.1:p.Arg3772Trp
XM_006723319.1:c.11299C>T XP_006723382.1:p.Arg3767Trp
XM_006723319.2:c.11299C>T XP_006723382.1:p.Arg3767Trp
XM_011527204.1:c.11311C>T XP_011525506.1:p.Arg3771Trp
XM_011527205.1:c.11314C>T XP_011525507.1:p.Arg3772Trp
XM_011527205.2:c.11314C>T XP_011525507.1:p.Arg3772Trp