Canonical Allele Identifier: CA507245886
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1189071505
gnomAD v2: 19-39068644-C-G
gnomAD v4: 19-38578004-C-G
MyVariant Identifiers: chr19:g.39068644C>G (hg19) chr19:g.38578004C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578004C>G , CM000681.2:g.38578004C>G GRCh38
NC_000019.9:g.39068644C>G , CM000681.1:g.39068644C>G GRCh37
NC_000019.8:g.43760484C>G NCBI36
NG_008866.1:g.149305C>G , LRG_766:g.149305C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1195C>G
ENST00000688602.1:c.2592C>G
ENST00000689936.1:c.2564C>G
ENST00000359596.8:c.14259C>G MANE Select ENSP00000352608.2:p.Ala4753=
ENST00000355481.8:c.14244C>G ENSP00000347667.3:p.Ala4748=
ENST00000359596.7:c.14259C>G ENSP00000352608.2:p.Ala4753=
ENST00000360985.7:c.14241C>G ENSP00000354254.4:p.Ala4747=
NM_000540.2:c.14259C>G , LRG_766t1:c.14259C>G NP_000531.2:p.Ala4753=
NM_001042723.1:c.14244C>G NP_001036188.1:p.Ala4748=
XM_006723317.1:c.14241C>G XP_006723380.1:p.Ala4747=
XM_006723319.1:c.14226C>G XP_006723382.1:p.Ala4742=
XM_011527204.1:c.14256C>G XP_011525506.1:p.Ala4752=
XM_011527205.1:c.14172C>G XP_011525507.1:p.Ala4724=
XM_006723317.2:c.14241C>G XP_006723380.1:p.Ala4747=
XM_006723319.2:c.14226C>G XP_006723382.1:p.Ala4742=
XM_011527205.2:c.14172C>G XP_011525507.1:p.Ala4724=
NM_000540.3:c.14259C>G MANE Select NP_000531.2:p.Ala4753=
NM_001042723.2:c.14244C>G NP_001036188.1:p.Ala4748=
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