Canonical Allele Identifier: CA2335091407
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578175T= , CM000681.2:g.38578175T= GRCh38
NC_000019.9:g.39068815T= , CM000681.1:g.39068815T= GRCh37
NC_000019.8:g.43760655T= NCBI36
NG_008866.1:g.149476T= , LRG_766:g.149476T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1271T=
ENST00000688602.1:c.2668T=
ENST00000689936.1:c.2640T=
ENST00000359596.8:c.14335T= MANE Select ENSP00000352608.2:p.Trp4779=
ENST00000355481.8:c.14320T= ENSP00000347667.3:p.Trp4774=
ENST00000359596.7:c.14335T= ENSP00000352608.2:p.Trp4779=
ENST00000360985.7:c.14317T= ENSP00000354254.4:p.Trp4773=
NM_000540.2:c.14335T= , LRG_766t1:c.14335T= NP_000531.2:p.Trp4779=
NM_001042723.1:c.14320T= NP_001036188.1:p.Trp4774=
XM_006723317.1:c.14317T= XP_006723380.1:p.Trp4773=
XM_006723319.1:c.14302T= XP_006723382.1:p.Trp4768=
XM_011527204.1:c.14332T= XP_011525506.1:p.Trp4778=
XM_011527205.1:c.14248T= XP_011525507.1:p.Trp4750=
XM_006723317.2:c.14317T= XP_006723380.1:p.Trp4773=
XM_006723319.2:c.14302T= XP_006723382.1:p.Trp4768=
XM_011527205.2:c.14248T= XP_011525507.1:p.Trp4750=
NM_000540.3:c.14335T= MANE Select NP_000531.2:p.Trp4779=
NM_001042723.2:c.14320T= NP_001036188.1:p.Trp4774=
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