Canonical Allele Identifier: CA2584910355

Gene: RYR1

Linked Data

• gnomAD v4: 19-38573408-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573408A>C , CM000681.2:g.38573408A>C	GRCh38
NC_000019.9:g.39064048A>C , CM000681.1:g.39064048A>C	GRCh37
NC_000019.8:g.43755888A>C	NCBI36
NG_008866.1:g.144709A>C , LRG_766:g.144709A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1065+101A>C
ENST00000688602.1:c.2462+101A>C
ENST00000689936.1:c.2434+101A>C
ENST00000359596.8:c.14129+101A>C MANE Select	ENSP00000352608.2:n.14129+101A>C
ENST00000355481.8:c.14114+101A>C	ENSP00000347667.3:n.14114+101A>C
ENST00000359596.7:c.14129+101A>C	ENSP00000352608.2:n.14129+101A>C
ENST00000360985.7:c.14111+101A>C	ENSP00000354254.4:n.14111+101A>C
NM_000540.2:c.14129+101A>C , LRG_766t1:c.14129+101A>C	NP_000531.2:n.14129+101A>C
NM_001042723.1:c.14114+101A>C	NP_001036188.1:n.14114+101A>C
XM_006723317.1:c.14111+101A>C	XP_006723380.1:n.14111+101A>C
XM_006723319.1:c.14096+101A>C	XP_006723382.1:n.14096+101A>C
XM_011527204.1:c.14126+101A>C	XP_011525506.1:n.14126+101A>C
XM_011527205.1:c.14042+101A>C	XP_011525507.1:n.14042+101A>C
XM_006723317.2:c.14111+101A>C	XP_006723380.1:n.14111+101A>C
XM_006723319.2:c.14096+101A>C	XP_006723382.1:n.14096+101A>C
XM_011527205.2:c.14042+101A>C	XP_011525507.1:n.14042+101A>C
NM_000540.3:c.14129+101A>C MANE Select	NP_000531.2:n.14129+101A>C
NM_001042723.2:c.14114+101A>C	NP_001036188.1:n.14114+101A>C