Canonical Allele Identifier: CA061288
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs767464525
ExAC: 19:38945824 A / AG
gnomAD v2: 19-38945824-A-AG
gnomAD v3: 19-38455184-A-AG
gnomAD v4: 19-38455184-A-AG
MyVariant Identifiers: chr19:g.38945824_38945825insG (hg19) chr19:g.38455184_38455185insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455187dup , CM000681.2:g.38455187dup GRCh38
NC_000019.9:g.38945827dup , CM000681.1:g.38945827dup GRCh37
NC_000019.8:g.43637667dup NCBI36
NG_008866.1:g.26488dup , LRG_766:g.26488dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1441-48dup ENSP00000471601.2:n.1441-48dup
ENST00000359596.8:c.1441-48dup MANE Select ENSP00000352608.2:n.1441-48dup
ENST00000355481.8:c.1441-48dup ENSP00000347667.3:n.1441-48dup
ENST00000359596.7:c.1441-48dup ENSP00000352608.2:n.1441-48dup
ENST00000360985.7:c.1441-48dup ENSP00000354254.4:n.1441-48dup
NM_000540.2:c.1441-48dup , LRG_766t1:c.1441-48dup NP_000531.2:n.1441-48dup
NM_001042723.1:c.1441-48dup NP_001036188.1:n.1441-48dup
XM_006723317.1:c.1441-48dup XP_006723380.1:n.1441-48dup
XM_006723319.1:c.1441-48dup XP_006723382.1:n.1441-48dup
XM_011527204.1:c.1438-48dup XP_011525506.1:n.1438-48dup
XM_011527205.1:c.1441-48dup XP_011525507.1:n.1441-48dup
XM_006723317.2:c.1441-48dup XP_006723380.1:n.1441-48dup
XM_006723319.2:c.1441-48dup XP_006723382.1:n.1441-48dup
XM_011527205.2:c.1441-48dup XP_011525507.1:n.1441-48dup
XR_001753735.1:n.1524-48dup
NM_000540.3:c.1441-48dup MANE Select NP_000531.2:n.1441-48dup
NM_001042723.2:c.1441-48dup NP_001036188.1:n.1441-48dup
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