Canonical Allele Identifier: CA024137

Gene: RYR1

Linked Data

• ClinVar Variation Id: 133065
• ClinVar RCV Id: RCV000119511 ; RCV000246367 ; RCV001795190 ; RCV001795188 ; RCV001795189
• dbSNP Id: rs7254832
• ExAC: 19:38945851 T / C
• gnomAD v2: 19-38945851-T-C
• gnomAD v3: 19-38455211-T-C
• gnomAD v4: 19-38455211-T-C
• MyVariant Identifiers: chr19:g.38945851T>C (hg19) ; chr19:g.38455211T>C (hg38)
• PubMed: PMID:16917943

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38455211T>C , CM000681.2:g.38455211T>C	GRCh38
NC_000019.9:g.38945851T>C , CM000681.1:g.38945851T>C	GRCh37
NC_000019.8:g.43637691T>C	NCBI36
NG_008866.1:g.26512T>C , LRG_766:g.26512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1441-24T>C	ENSP00000471601.2:n.1441-24T>C
ENST00000359596.8:c.1441-24T>C MANE Select	ENSP00000352608.2:n.1441-24T>C
ENST00000355481.8:c.1441-24T>C	ENSP00000347667.3:n.1441-24T>C
ENST00000359596.7:c.1441-24T>C	ENSP00000352608.2:n.1441-24T>C
ENST00000360985.7:c.1441-24T>C	ENSP00000354254.4:n.1441-24T>C
NM_000540.2:c.1441-24T>C , LRG_766t1:c.1441-24T>C	NP_000531.2:n.1441-24T>C
NM_001042723.1:c.1441-24T>C	NP_001036188.1:n.1441-24T>C
XM_006723317.1:c.1441-24T>C	XP_006723380.1:n.1441-24T>C
XM_006723319.1:c.1441-24T>C	XP_006723382.1:n.1441-24T>C
XM_011527204.1:c.1438-24T>C	XP_011525506.1:n.1438-24T>C
XM_011527205.1:c.1441-24T>C	XP_011525507.1:n.1441-24T>C
XM_006723317.2:c.1441-24T>C	XP_006723380.1:n.1441-24T>C
XM_006723319.2:c.1441-24T>C	XP_006723382.1:n.1441-24T>C
XM_011527205.2:c.1441-24T>C	XP_011525507.1:n.1441-24T>C
XR_001753735.1:n.1524-24T>C
NM_000540.3:c.1441-24T>C MANE Select	NP_000531.2:n.1441-24T>C
NM_001042723.2:c.1441-24T>C	NP_001036188.1:n.1441-24T>C