Canonical Allele Identifier: CA405681839
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39063829A>G (hg19) chr19:g.38573189A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573189A>G , CM000681.2:g.38573189A>G GRCh38
NC_000019.9:g.39063829A>G , CM000681.1:g.39063829A>G GRCh37
NC_000019.8:g.43755669A>G NCBI36
NG_008866.1:g.144490A>G , LRG_766:g.144490A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.947A>G
ENST00000688602.1:c.2344A>G
ENST00000689936.1:c.2316A>G
ENST00000359596.8:c.14011A>G MANE Select ENSP00000352608.2:p.Ile4671Val
ENST00000355481.8:c.13996A>G ENSP00000347667.3:p.Ile4666Val
ENST00000359596.7:c.14011A>G ENSP00000352608.2:p.Ile4671Val
ENST00000360985.7:c.13993A>G ENSP00000354254.4:p.Ile4665Val
NM_000540.2:c.14011A>G , LRG_766t1:c.14011A>G NP_000531.2:p.Ile4671Val
NM_001042723.1:c.13996A>G NP_001036188.1:p.Ile4666Val
XM_006723317.1:c.13993A>G XP_006723380.1:p.Ile4665Val
XM_006723319.1:c.13978A>G XP_006723382.1:p.Ile4660Val
XM_011527204.1:c.14008A>G XP_011525506.1:p.Ile4670Val
XM_011527205.1:c.13924A>G XP_011525507.1:p.Ile4642Val
XM_006723317.2:c.13993A>G XP_006723380.1:p.Ile4665Val
XM_006723319.2:c.13978A>G XP_006723382.1:p.Ile4660Val
XM_011527205.2:c.13924A>G XP_011525507.1:p.Ile4642Val
NM_000540.3:c.14011A>G MANE Select NP_000531.2:p.Ile4671Val
NM_001042723.2:c.13996A>G NP_001036188.1:p.Ile4666Val
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