Canonical Allele Identifier: CA405684721
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068654C>A (hg19) chr19:g.38578014C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578014C>A , CM000681.2:g.38578014C>A GRCh38
NC_000019.9:g.39068654C>A , CM000681.1:g.39068654C>A GRCh37
NC_000019.8:g.43760494C>A NCBI36
NG_008866.1:g.149315C>A , LRG_766:g.149315C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1205C>A
ENST00000688602.1:c.2602C>A
ENST00000689936.1:c.2574C>A
ENST00000359596.8:c.14269C>A MANE Select ENSP00000352608.2:p.Arg4757Ser
ENST00000355481.8:c.14254C>A ENSP00000347667.3:p.Arg4752Ser
ENST00000359596.7:c.14269C>A ENSP00000352608.2:p.Arg4757Ser
ENST00000360985.7:c.14251C>A ENSP00000354254.4:p.Arg4751Ser
NM_000540.2:c.14269C>A , LRG_766t1:c.14269C>A NP_000531.2:p.Arg4757Ser
NM_001042723.1:c.14254C>A NP_001036188.1:p.Arg4752Ser
XM_006723317.1:c.14251C>A XP_006723380.1:p.Arg4751Ser
XM_006723319.1:c.14236C>A XP_006723382.1:p.Arg4746Ser
XM_011527204.1:c.14266C>A XP_011525506.1:p.Arg4756Ser
XM_011527205.1:c.14182C>A XP_011525507.1:p.Arg4728Ser
XM_006723317.2:c.14251C>A XP_006723380.1:p.Arg4751Ser
XM_006723319.2:c.14236C>A XP_006723382.1:p.Arg4746Ser
XM_011527205.2:c.14182C>A XP_011525507.1:p.Arg4728Ser
NM_000540.3:c.14269C>A MANE Select NP_000531.2:p.Arg4757Ser
NM_001042723.2:c.14254C>A NP_001036188.1:p.Arg4752Ser
Search 100 bp 5'
Search 100 bp 3'