Canonical Allele Identifier: CA2335094911
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38584926G= , CM000681.2:g.38584926G= GRCh38
NC_000019.9:g.39075566G= , CM000681.1:g.39075566G= GRCh37
NC_000019.8:g.43767406G= NCBI36
NG_008866.1:g.156227G= , LRG_766:g.156227G=

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1583-17G=
ENST00000688602.1:c.2980-17G=
ENST00000689936.1:c.2952-17G=
ENST00000692547.1:n.23G=
ENST00000359596.8:c.14647-17G= MANE Select ENSP00000352608.2:n.14647-17G=
ENST00000355481.8:c.14632-17G= ENSP00000347667.3:n.14632-17G=
ENST00000359596.7:c.14647-17G= ENSP00000352608.2:n.14647-17G=
ENST00000360985.7:c.14629-17G= ENSP00000354254.4:n.14629-17G=
NM_000540.2:c.14647-17G= , LRG_766t1:c.14647-17G= NP_000531.2:n.14647-17G=
NM_001042723.1:c.14632-17G= NP_001036188.1:n.14632-17G=
XM_006723317.1:c.14629-17G= XP_006723380.1:n.14629-17G=
XM_006723319.1:c.14614-17G= XP_006723382.1:n.14614-17G=
XM_011527204.1:c.14644-17G= XP_011525506.1:n.14644-17G=
XM_011527205.1:c.14560-17G= XP_011525507.1:n.14560-17G=
XM_006723317.2:c.14629-17G= XP_006723380.1:n.14629-17G=
XM_006723319.2:c.14614-17G= XP_006723382.1:n.14614-17G=
XM_011527205.2:c.14560-17G= XP_011525507.1:n.14560-17G=
NM_000540.3:c.14647-17G= MANE Select NP_000531.2:n.14647-17G=
NM_001042723.2:c.14632-17G= NP_001036188.1:n.14632-17G=