Canonical Allele Identifier: CA507245873
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068626C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577986C>G , CM000681.2:g.38577986C>G GRCh38
NC_000019.9:g.39068626C>G , CM000681.1:g.39068626C>G GRCh37
NC_000019.8:g.43760466C>G NCBI36
NG_008866.1:g.149287C>G , LRG_766:g.149287C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1177C>G
ENST00000688602.1:c.2574C>G
ENST00000689936.1:c.2546C>G
ENST00000359596.8:c.14241C>G MANE Select ENSP00000352608.2:p.Ala4747=
ENST00000355481.8:c.14226C>G ENSP00000347667.3:p.Ala4742=
ENST00000359596.7:c.14241C>G ENSP00000352608.2:p.Ala4747=
ENST00000360985.7:c.14223C>G ENSP00000354254.4:p.Ala4741=
NM_000540.2:c.14241C>G , LRG_766t1:c.14241C>G NP_000531.2:p.Ala4747=
NM_001042723.1:c.14226C>G NP_001036188.1:p.Ala4742=
XM_006723317.1:c.14223C>G XP_006723380.1:p.Ala4741=
XM_006723319.1:c.14208C>G XP_006723382.1:p.Ala4736=
XM_011527204.1:c.14238C>G XP_011525506.1:p.Ala4746=
XM_011527205.1:c.14154C>G XP_011525507.1:p.Ala4718=
XM_006723317.2:c.14223C>G XP_006723380.1:p.Ala4741=
XM_006723319.2:c.14208C>G XP_006723382.1:p.Ala4736=
XM_011527205.2:c.14154C>G XP_011525507.1:p.Ala4718=
NM_000540.3:c.14241C>G MANE Select NP_000531.2:p.Ala4747=
NM_001042723.2:c.14226C>G NP_001036188.1:p.Ala4742=
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