Canonical Allele Identifier: CA632878110

Gene: RYR1

Linked Data

• dbSNP Id: rs1295360181
• gnomAD v2: 19-39076708-C-CTGA
• gnomAD v3: 19-38586068-C-CTGA
• gnomAD v4: 19-38586068-C-CTGA
• MyVariant Identifiers: chr19:g.39076708_39076709insTGA (hg19) ; chr19:g.38586068_38586069insTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586071_38586073dup , CM000681.2:g.38586071_38586073dup	GRCh38
NC_000019.9:g.39076711_39076713dup , CM000681.1:g.39076711_39076713dup	GRCh37
NC_000019.8:g.43768551_43768553dup	NCBI36
NG_008866.1:g.157372_157374dup , LRG_766:g.157372_157374dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1805-20_1805-18dup
ENST00000688602.1:c.3202-20_3202-18dup
ENST00000689936.1:c.3174-20_3174-18dup
ENST00000692547.1:n.262-20_262-18dup
ENST00000359596.8:c.14869-20_14869-18dup MANE Select	ENSP00000352608.2:n.14869-20_14869-18dup
ENST00000355481.8:c.14854-20_14854-18dup	ENSP00000347667.3:n.14854-20_14854-18dup
ENST00000359596.7:c.14869-20_14869-18dup	ENSP00000352608.2:n.14869-20_14869-18dup
ENST00000360985.7:c.14851-20_14851-18dup	ENSP00000354254.4:n.14851-20_14851-18dup
NM_000540.2:c.14869-20_14869-18dup , LRG_766t1:c.14869-20_14869-18dup	NP_000531.2:n.14869-20_14869-18dup
NM_001042723.1:c.14854-20_14854-18dup	NP_001036188.1:n.14854-20_14854-18dup
XM_006723317.1:c.14851-20_14851-18dup	XP_006723380.1:n.14851-20_14851-18dup
XM_006723319.1:c.14836-20_14836-18dup	XP_006723382.1:n.14836-20_14836-18dup
XM_011527204.1:c.14866-20_14866-18dup	XP_011525506.1:n.14866-20_14866-18dup
XM_011527205.1:c.14782-20_14782-18dup	XP_011525507.1:n.14782-20_14782-18dup
XM_006723317.2:c.14851-20_14851-18dup	XP_006723380.1:n.14851-20_14851-18dup
XM_006723319.2:c.14836-20_14836-18dup	XP_006723382.1:n.14836-20_14836-18dup
XM_011527205.2:c.14782-20_14782-18dup	XP_011525507.1:n.14782-20_14782-18dup
NM_000540.3:c.14869-20_14869-18dup MANE Select	NP_000531.2:n.14869-20_14869-18dup
NM_001042723.2:c.14854-20_14854-18dup	NP_001036188.1:n.14854-20_14854-18dup