Canonical Allele Identifier: CA068087
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs758590738
ExAC: 19:38937083 A / T
gnomAD v2: 19-38937083-A-T
MyVariant Identifiers: chr19:g.38937083A>T (hg19) chr19:g.38446443A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38446443A>T , CM000681.2:g.38446443A>T GRCh38
NC_000019.9:g.38937083A>T , CM000681.1:g.38937083A>T GRCh37
NC_000019.8:g.43628923A>T NCBI36
NG_008866.1:g.17744A>T , LRG_766:g.17744A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.632-29A>T ENSP00000471601.2:n.632-29A>T
ENST00000359596.8:c.632-29A>T MANE Select ENSP00000352608.2:n.632-29A>T
ENST00000355481.8:c.632-29A>T ENSP00000347667.3:n.632-29A>T
ENST00000359596.7:c.632-29A>T ENSP00000352608.2:n.632-29A>T
ENST00000360985.7:c.632-29A>T ENSP00000354254.4:n.632-29A>T
NM_000540.2:c.632-29A>T , LRG_766t1:c.632-29A>T NP_000531.2:n.632-29A>T
NM_001042723.1:c.632-29A>T NP_001036188.1:n.632-29A>T
XM_006723317.1:c.632-29A>T XP_006723380.1:n.632-29A>T
XM_006723319.1:c.632-29A>T XP_006723382.1:n.632-29A>T
XM_011527204.1:c.632-29A>T XP_011525506.1:n.632-29A>T
XM_011527205.1:c.632-29A>T XP_011525507.1:n.632-29A>T
XM_006723317.2:c.632-29A>T XP_006723380.1:n.632-29A>T
XM_006723319.2:c.632-29A>T XP_006723382.1:n.632-29A>T
XM_011527205.2:c.632-29A>T XP_011525507.1:n.632-29A>T
XR_001753735.1:n.715-29A>T
NM_000540.3:c.632-29A>T MANE Select NP_000531.2:n.632-29A>T
NM_001042723.2:c.632-29A>T NP_001036188.1:n.632-29A>T
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