Canonical Allele Identifier: CA405685188
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.39068810A>G (hg19) chr19:g.38578170A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578170A>G , CM000681.2:g.38578170A>G GRCh38
NC_000019.9:g.39068810A>G , CM000681.1:g.39068810A>G GRCh37
NC_000019.8:g.43760650A>G NCBI36
NG_008866.1:g.149471A>G , LRG_766:g.149471A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1266A>G
ENST00000688602.1:c.2663A>G
ENST00000689936.1:c.2635A>G
ENST00000359596.8:c.14330A>G MANE Select ENSP00000352608.2:p.Gln4777Arg
ENST00000355481.8:c.14315A>G ENSP00000347667.3:p.Gln4772Arg
ENST00000359596.7:c.14330A>G ENSP00000352608.2:p.Gln4777Arg
ENST00000360985.7:c.14312A>G ENSP00000354254.4:p.Gln4771Arg
NM_000540.2:c.14330A>G , LRG_766t1:c.14330A>G NP_000531.2:p.Gln4777Arg
NM_001042723.1:c.14315A>G NP_001036188.1:p.Gln4772Arg
XM_006723317.1:c.14312A>G XP_006723380.1:p.Gln4771Arg
XM_006723319.1:c.14297A>G XP_006723382.1:p.Gln4766Arg
XM_011527204.1:c.14327A>G XP_011525506.1:p.Gln4776Arg
XM_011527205.1:c.14243A>G XP_011525507.1:p.Gln4748Arg
XM_006723317.2:c.14312A>G XP_006723380.1:p.Gln4771Arg
XM_006723319.2:c.14297A>G XP_006723382.1:p.Gln4766Arg
XM_011527205.2:c.14243A>G XP_011525507.1:p.Gln4748Arg
NM_000540.3:c.14330A>G MANE Select NP_000531.2:p.Gln4777Arg
NM_001042723.2:c.14315A>G NP_001036188.1:p.Gln4772Arg
Search 100 bp 5'
Search 100 bp 3'