Canonical Allele Identifier: CA072142

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329079
• ClinVar RCV Id: RCV000272700 ; RCV000292819 ; RCV000327865 ; RCV000387044 ; RCV002521223
• dbSNP Id: rs140171924
• ExAC: 19:38996559 A / C
• gnomAD v2: 19-38996559-A-C
• gnomAD v3: 19-38505919-A-C
• gnomAD v4: 19-38505919-A-C
• MyVariant Identifiers: chr19:g.38996559A>C (hg19) ; chr19:g.38505919A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38505919A>C , CM000681.2:g.38505919A>C	GRCh38
NC_000019.9:g.38996559A>C , CM000681.1:g.38996559A>C	GRCh37
NC_000019.8:g.43688399A>C	NCBI36
NG_008866.1:g.77220A>C , LRG_766:g.77220A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.8514A>C	ENSP00000471601.2:p.Lys2838Asn
ENST00000359596.8:c.8514A>C MANE Select	ENSP00000352608.2:p.Lys2838Asn
ENST00000355481.8:c.8514A>C	ENSP00000347667.3:p.Lys2838Asn
ENST00000359596.7:c.8514A>C	ENSP00000352608.2:p.Lys2838Asn
ENST00000360985.7:c.8511A>C	ENSP00000354254.4:p.Lys2837Asn
ENST00000594335.5:c.1966A>C
NM_000540.2:c.8514A>C , LRG_766t1:c.8514A>C	NP_000531.2:p.Lys2838Asn
NM_001042723.1:c.8514A>C	NP_001036188.1:p.Lys2838Asn
XM_006723317.1:c.8514A>C	XP_006723380.1:p.Lys2838Asn
XM_006723319.1:c.8514A>C	XP_006723382.1:p.Lys2838Asn
XM_011527204.1:c.8511A>C	XP_011525506.1:p.Lys2837Asn
XM_011527205.1:c.8514A>C	XP_011525507.1:p.Lys2838Asn
XM_006723317.2:c.8514A>C	XP_006723380.1:p.Lys2838Asn
XM_006723319.2:c.8514A>C	XP_006723382.1:p.Lys2838Asn
XM_011527205.2:c.8514A>C	XP_011525507.1:p.Lys2838Asn
XR_001753735.1:n.8597A>C
NM_000540.3:c.8514A>C MANE Select	NP_000531.2:p.Lys2838Asn
NM_001042723.2:c.8514A>C	NP_001036188.1:p.Lys2838Asn