Canonical Allele Identifier: CA405684997
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578148-A-C
MyVariant Identifiers: chr19:g.39068788A>C (hg19) chr19:g.38578148A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578148A>C , CM000681.2:g.38578148A>C GRCh38
NC_000019.9:g.39068788A>C , CM000681.1:g.39068788A>C GRCh37
NC_000019.8:g.43760628A>C NCBI36
NG_008866.1:g.149449A>C , LRG_766:g.149449A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1244A>C
ENST00000688602.1:c.2641A>C
ENST00000689936.1:c.2613A>C
ENST00000359596.8:c.14308A>C MANE Select ENSP00000352608.2:p.Met4770Leu
ENST00000355481.8:c.14293A>C ENSP00000347667.3:p.Met4765Leu
ENST00000359596.7:c.14308A>C ENSP00000352608.2:p.Met4770Leu
ENST00000360985.7:c.14290A>C ENSP00000354254.4:p.Met4764Leu
NM_000540.2:c.14308A>C , LRG_766t1:c.14308A>C NP_000531.2:p.Met4770Leu
NM_001042723.1:c.14293A>C NP_001036188.1:p.Met4765Leu
XM_006723317.1:c.14290A>C XP_006723380.1:p.Met4764Leu
XM_006723319.1:c.14275A>C XP_006723382.1:p.Met4759Leu
XM_011527204.1:c.14305A>C XP_011525506.1:p.Met4769Leu
XM_011527205.1:c.14221A>C XP_011525507.1:p.Met4741Leu
XM_006723317.2:c.14290A>C XP_006723380.1:p.Met4764Leu
XM_006723319.2:c.14275A>C XP_006723382.1:p.Met4759Leu
XM_011527205.2:c.14221A>C XP_011525507.1:p.Met4741Leu
NM_000540.3:c.14308A>C MANE Select NP_000531.2:p.Met4770Leu
NM_001042723.2:c.14293A>C NP_001036188.1:p.Met4765Leu
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