Canonical Allele Identifier: CA023909
Community Standard Title: NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38534775G>A , CM000681.2:g.38534775G>A GRCh38
NC_000019.9:g.39025415G>A , CM000681.1:g.39025415G>A GRCh37
NC_000019.8:g.43717255G>A NCBI36
NG_008866.1:g.106076G>A , LRG_766:g.106076G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.11315G>A MANE Select NP_000531.2:p.Arg3772Gln
ENST00000359596.8:c.11315G>A MANE Select ENSP00000352608.2:p.Arg3772Gln
NM_000540.2:c.11315G>A , LRG_766t1:c.11315G>A NP_000531.2:p.Arg3772Gln
NM_001042723.1:c.11300G>A NP_001036188.1:p.Arg3767Gln
NM_001042723.2:c.11300G>A NP_001036188.1:p.Arg3767Gln
ENST00000355481.8:c.11300G>A ENSP00000347667.3:p.Arg3767Gln
ENST00000359596.7:c.11315G>A ENSP00000352608.2:p.Arg3772Gln
ENST00000360985.7:c.11297G>A ENSP00000354254.4:p.Arg3766Gln
ENST00000593322.1:c.16G>A
ENST00000594335.5:c.4702G>A
ENST00000596431.5:c.44G>A ENSP00000470848.1:p.Arg15Gln
ENST00000599547.5:c.2122G>A
ENST00000599547.6:c.11254G>A ENSP00000471601.2:n.11254G>A
ENST00000601514.5:c.596G>A ENSP00000472497.1:p.Arg199Gln
XM_006723317.1:c.11315G>A XP_006723380.1:p.Arg3772Gln
XM_006723317.2:c.11315G>A XP_006723380.1:p.Arg3772Gln
XM_006723319.1:c.11300G>A XP_006723382.1:p.Arg3767Gln
XM_006723319.2:c.11300G>A XP_006723382.1:p.Arg3767Gln
XM_011527204.1:c.11312G>A XP_011525506.1:p.Arg3771Gln
XM_011527205.1:c.11315G>A XP_011525507.1:p.Arg3772Gln
XM_011527205.2:c.11315G>A XP_011525507.1:p.Arg3772Gln