Canonical Allele Identifier: CA10651818

Gene: RYR1

Linked Data

• ClinVar Variation Id: 328994
• ClinVar RCV Id: RCV000271566 ; RCV000306535 ; RCV000363816 ; RCV000391071 ; RCV002521217
• dbSNP Id: rs760987340
• gnomAD v2: 19-38945863-T-C
• gnomAD v3: 19-38455223-T-C
• gnomAD v4: 19-38455223-T-C
• MyVariant Identifiers: chr19:g.38945863T>C (hg19) ; chr19:g.38455223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38455223T>C , CM000681.2:g.38455223T>C	GRCh38
NC_000019.9:g.38945863T>C , CM000681.1:g.38945863T>C	GRCh37
NC_000019.8:g.43637703T>C	NCBI36
NG_008866.1:g.26524T>C , LRG_766:g.26524T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1441-12T>C	ENSP00000471601.2:n.1441-12T>C
ENST00000359596.8:c.1441-12T>C MANE Select	ENSP00000352608.2:n.1441-12T>C
ENST00000355481.8:c.1441-12T>C	ENSP00000347667.3:n.1441-12T>C
ENST00000359596.7:c.1441-12T>C	ENSP00000352608.2:n.1441-12T>C
ENST00000360985.7:c.1441-12T>C	ENSP00000354254.4:n.1441-12T>C
NM_000540.2:c.1441-12T>C , LRG_766t1:c.1441-12T>C	NP_000531.2:n.1441-12T>C
NM_001042723.1:c.1441-12T>C	NP_001036188.1:n.1441-12T>C
XM_006723317.1:c.1441-12T>C	XP_006723380.1:n.1441-12T>C
XM_006723319.1:c.1441-12T>C	XP_006723382.1:n.1441-12T>C
XM_011527204.1:c.1438-12T>C	XP_011525506.1:n.1438-12T>C
XM_011527205.1:c.1441-12T>C	XP_011525507.1:n.1441-12T>C
XM_006723317.2:c.1441-12T>C	XP_006723380.1:n.1441-12T>C
XM_006723319.2:c.1441-12T>C	XP_006723382.1:n.1441-12T>C
XM_011527205.2:c.1441-12T>C	XP_011525507.1:n.1441-12T>C
XR_001753735.1:n.1524-12T>C
NM_000540.3:c.1441-12T>C MANE Select	NP_000531.2:n.1441-12T>C
NM_001042723.2:c.1441-12T>C	NP_001036188.1:n.1441-12T>C