Canonical Allele Identifier: CA2335054959

Gene: RYR1

Linked Data

• dbSNP Id: rs1970273940
• gnomAD v4: 19-38503099-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38503102_38503103dup , CM000681.2:g.38503102_38503103dup	GRCh38
NC_000019.9:g.38993742_38993743dup , CM000681.1:g.38993742_38993743dup	GRCh37
NC_000019.8:g.43685582_43685583dup	NCBI36
NG_008866.1:g.74403_74404dup , LRG_766:g.74403_74404dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7926+132_7926+133dup	ENSP00000471601.2:n.7926+132_7926+133dup
ENST00000359596.8:c.7926+132_7926+133dup MANE Select	ENSP00000352608.2:n.7926+132_7926+133dup
ENST00000355481.8:c.7926+132_7926+133dup	ENSP00000347667.3:n.7926+132_7926+133dup
ENST00000359596.7:c.7926+132_7926+133dup	ENSP00000352608.2:n.7926+132_7926+133dup
ENST00000360985.7:c.7923+132_7923+133dup	ENSP00000354254.4:n.7923+132_7923+133dup
ENST00000594335.5:c.1378+132_1378+133dup
NM_000540.2:c.7926+132_7926+133dup , LRG_766t1:c.7926+132_7926+133dup	NP_000531.2:n.7926+132_7926+133dup
NM_001042723.1:c.7926+132_7926+133dup	NP_001036188.1:n.7926+132_7926+133dup
XM_006723317.1:c.7926+132_7926+133dup	XP_006723380.1:n.7926+132_7926+133dup
XM_006723319.1:c.7926+132_7926+133dup	XP_006723382.1:n.7926+132_7926+133dup
XM_011527204.1:c.7923+132_7923+133dup	XP_011525506.1:n.7923+132_7923+133dup
XM_011527205.1:c.7926+132_7926+133dup	XP_011525507.1:n.7926+132_7926+133dup
XM_006723317.2:c.7926+132_7926+133dup	XP_006723380.1:n.7926+132_7926+133dup
XM_006723319.2:c.7926+132_7926+133dup	XP_006723382.1:n.7926+132_7926+133dup
XM_011527205.2:c.7926+132_7926+133dup	XP_011525507.1:n.7926+132_7926+133dup
XR_001753735.1:n.8009+132_8009+133dup
NM_000540.3:c.7926+132_7926+133dup MANE Select	NP_000531.2:n.7926+132_7926+133dup
NM_001042723.2:c.7926+132_7926+133dup	NP_001036188.1:n.7926+132_7926+133dup