Canonical Allele Identifier: CA056181

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329105
• ClinVar RCV Id: RCV000285706 ; RCV000343029 ; RCV000382513 ; RCV000391397 ; RCV002057510
• dbSNP Id: rs370928637
• ExAC: 19:39023196 C / G
• gnomAD v2: 19-39023196-C-G
• gnomAD v3: 19-38532556-C-G
• gnomAD v4: 19-38532556-C-G
• MyVariant Identifiers: chr19:g.39023196C>G (hg19) ; chr19:g.38532556C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38532556C>G , CM000681.2:g.38532556C>G	GRCh38
NC_000019.9:g.39023196C>G , CM000681.1:g.39023196C>G	GRCh37
NC_000019.8:g.43715036C>G	NCBI36
NG_008866.1:g.103857C>G , LRG_766:g.103857C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.11132+15C>G	ENSP00000471601.2:n.11132+15C>G
ENST00000359596.8:c.11193+15C>G MANE Select	ENSP00000352608.2:n.11193+15C>G
ENST00000355481.8:c.11178+15C>G	ENSP00000347667.3:n.11178+15C>G
ENST00000359596.7:c.11193+15C>G	ENSP00000352608.2:n.11193+15C>G
ENST00000360985.7:c.11175+15C>G	ENSP00000354254.4:n.11175+15C>G
ENST00000594335.5:c.4580+15C>G
ENST00000599547.5:c.2000+15C>G
ENST00000601514.5:c.474+15C>G	ENSP00000472497.1:n.474+15C>G
NM_000540.2:c.11193+15C>G , LRG_766t1:c.11193+15C>G	NP_000531.2:n.11193+15C>G
NM_001042723.1:c.11178+15C>G	NP_001036188.1:n.11178+15C>G
XM_006723317.1:c.11193+15C>G	XP_006723380.1:n.11193+15C>G
XM_006723319.1:c.11178+15C>G	XP_006723382.1:n.11178+15C>G
XM_011527204.1:c.11190+15C>G	XP_011525506.1:n.11190+15C>G
XM_011527205.1:c.11193+15C>G	XP_011525507.1:n.11193+15C>G
XM_006723317.2:c.11193+15C>G	XP_006723380.1:n.11193+15C>G
XM_006723319.2:c.11178+15C>G	XP_006723382.1:n.11178+15C>G
XM_011527205.2:c.11193+15C>G	XP_011525507.1:n.11193+15C>G
NM_000540.3:c.11193+15C>G MANE Select	NP_000531.2:n.11193+15C>G
NM_001042723.2:c.11178+15C>G	NP_001036188.1:n.11178+15C>G