Canonical Allele Identifier: CA405687845
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39071087C>G (hg19) chr19:g.38580447C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580447C>G , CM000681.2:g.38580447C>G GRCh38
NC_000019.9:g.39071087C>G , CM000681.1:g.39071087C>G GRCh37
NC_000019.8:g.43762927C>G NCBI36
NG_008866.1:g.151748C>G , LRG_766:g.151748C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1525C>G
ENST00000688602.1:c.2922C>G
ENST00000689936.1:c.2894C>G
ENST00000359596.8:c.14589C>G MANE Select ENSP00000352608.2:p.Phe4863Leu
ENST00000355481.8:c.14574C>G ENSP00000347667.3:p.Phe4858Leu
ENST00000359596.7:c.14589C>G ENSP00000352608.2:p.Phe4863Leu
ENST00000360985.7:c.14571C>G ENSP00000354254.4:p.Phe4857Leu
NM_000540.2:c.14589C>G , LRG_766t1:c.14589C>G NP_000531.2:p.Phe4863Leu
NM_001042723.1:c.14574C>G NP_001036188.1:p.Phe4858Leu
XM_006723317.1:c.14571C>G XP_006723380.1:p.Phe4857Leu
XM_006723319.1:c.14556C>G XP_006723382.1:p.Phe4852Leu
XM_011527204.1:c.14586C>G XP_011525506.1:p.Phe4862Leu
XM_011527205.1:c.14502C>G XP_011525507.1:p.Phe4834Leu
XM_006723317.2:c.14571C>G XP_006723380.1:p.Phe4857Leu
XM_006723319.2:c.14556C>G XP_006723382.1:p.Phe4852Leu
XM_011527205.2:c.14502C>G XP_011525507.1:p.Phe4834Leu
NM_000540.3:c.14589C>G MANE Select NP_000531.2:p.Phe4863Leu
NM_001042723.2:c.14574C>G NP_001036188.1:p.Phe4858Leu
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