Canonical Allele Identifier: CA2584911169

Gene: RYR1

Linked Data

• gnomAD v4: 19-38585110-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585110G>C , CM000681.2:g.38585110G>C	GRCh38
NC_000019.9:g.39075750G>C , CM000681.1:g.39075750G>C	GRCh37
NC_000019.8:g.43767590G>C	NCBI36
NG_008866.1:g.156411G>C , LRG_766:g.156411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1739+11G>C
ENST00000688602.1:c.3136+11G>C
ENST00000689936.1:c.3108+11G>C
ENST00000692547.1:n.196+11G>C
ENST00000359596.8:c.14803+11G>C MANE Select	ENSP00000352608.2:n.14803+11G>C
ENST00000355481.8:c.14788+11G>C	ENSP00000347667.3:n.14788+11G>C
ENST00000359596.7:c.14803+11G>C	ENSP00000352608.2:n.14803+11G>C
ENST00000360985.7:c.14785+11G>C	ENSP00000354254.4:n.14785+11G>C
NM_000540.2:c.14803+11G>C , LRG_766t1:c.14803+11G>C	NP_000531.2:n.14803+11G>C
NM_001042723.1:c.14788+11G>C	NP_001036188.1:n.14788+11G>C
XM_006723317.1:c.14785+11G>C	XP_006723380.1:n.14785+11G>C
XM_006723319.1:c.14770+11G>C	XP_006723382.1:n.14770+11G>C
XM_011527204.1:c.14800+11G>C	XP_011525506.1:n.14800+11G>C
XM_011527205.1:c.14716+11G>C	XP_011525507.1:n.14716+11G>C
XM_006723317.2:c.14785+11G>C	XP_006723380.1:n.14785+11G>C
XM_006723319.2:c.14770+11G>C	XP_006723382.1:n.14770+11G>C
XM_011527205.2:c.14716+11G>C	XP_011525507.1:n.14716+11G>C
NM_000540.3:c.14803+11G>C MANE Select	NP_000531.2:n.14803+11G>C
NM_001042723.2:c.14788+11G>C	NP_001036188.1:n.14788+11G>C