Canonical Allele Identifier: CA081184
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1342192000
gnomAD v2: 19-39068800-G-A
gnomAD v4: 19-38578160-G-A
MyVariant Identifiers: chr19:g.39068800G>A (hg19) chr19:g.38578160G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578160G>A , CM000681.2:g.38578160G>A GRCh38
NC_000019.9:g.39068800G>A , CM000681.1:g.39068800G>A GRCh37
NC_000019.8:g.43760640G>A NCBI36
NG_008866.1:g.149461G>A , LRG_766:g.149461G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1256G>A
ENST00000688602.1:c.2653G>A
ENST00000689936.1:c.2625G>A
ENST00000359596.8:c.14320G>A MANE Select ENSP00000352608.2:p.Val4774Ile
ENST00000355481.8:c.14305G>A ENSP00000347667.3:p.Val4769Ile
ENST00000359596.7:c.14320G>A ENSP00000352608.2:p.Val4774Ile
ENST00000360985.7:c.14302G>A ENSP00000354254.4:p.Val4768Ile
NM_000540.2:c.14320G>A , LRG_766t1:c.14320G>A NP_000531.2:p.Val4774Ile
NM_001042723.1:c.14305G>A NP_001036188.1:p.Val4769Ile
XM_006723317.1:c.14302G>A XP_006723380.1:p.Val4768Ile
XM_006723319.1:c.14287G>A XP_006723382.1:p.Val4763Ile
XM_011527204.1:c.14317G>A XP_011525506.1:p.Val4773Ile
XM_011527205.1:c.14233G>A XP_011525507.1:p.Val4745Ile
XM_006723317.2:c.14302G>A XP_006723380.1:p.Val4768Ile
XM_006723319.2:c.14287G>A XP_006723382.1:p.Val4763Ile
XM_011527205.2:c.14233G>A XP_011525507.1:p.Val4745Ile
NM_000540.3:c.14320G>A MANE Select NP_000531.2:p.Val4774Ile
NM_001042723.2:c.14305G>A NP_001036188.1:p.Val4769Ile
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