Canonical Allele Identifier: CA632869679

Gene: RYR1

Linked Data

• dbSNP Id: rs1421246298
• gnomAD v2: 19-38931337-G-GCA
• gnomAD v3: 19-38440697-G-GCA
• gnomAD v4: 19-38440697-G-GCA
• MyVariant Identifiers: chr19:g.38931337_38931338insCA (hg19) ; chr19:g.38440697_38440698insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38440697_38440698insCA , CM000681.2:g.38440697_38440698insCA	GRCh38
NC_000019.9:g.38931337_38931338insCA , CM000681.1:g.38931337_38931338insCA	GRCh37
NC_000019.8:g.43623177_43623178insCA	NCBI36
NG_008866.1:g.11998_11999insCA , LRG_766:g.11998_11999insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.46-48_46-47insCA	ENSP00000471601.2:n.46-48_46-47insCA
ENST00000359596.8:c.46-48_46-47insCA MANE Select	ENSP00000352608.2:n.46-48_46-47insCA
ENST00000355481.8:c.46-48_46-47insCA	ENSP00000347667.3:n.46-48_46-47insCA
ENST00000359596.7:c.46-48_46-47insCA	ENSP00000352608.2:n.46-48_46-47insCA
ENST00000360985.7:c.46-48_46-47insCA	ENSP00000354254.4:n.46-48_46-47insCA
NM_000540.2:c.46-48_46-47insCA , LRG_766t1:c.46-48_46-47insCA	NP_000531.2:n.46-48_46-47insCA
NM_001042723.1:c.46-48_46-47insCA	NP_001036188.1:n.46-48_46-47insCA
XM_006723317.1:c.46-48_46-47insCA	XP_006723380.1:n.46-48_46-47insCA
XM_006723319.1:c.46-48_46-47insCA	XP_006723382.1:n.46-48_46-47insCA
XM_011527204.1:c.46-48_46-47insCA	XP_011525506.1:n.46-48_46-47insCA
XM_011527205.1:c.46-48_46-47insCA	XP_011525507.1:n.46-48_46-47insCA
XM_006723317.2:c.46-48_46-47insCA	XP_006723380.1:n.46-48_46-47insCA
XM_006723319.2:c.46-48_46-47insCA	XP_006723382.1:n.46-48_46-47insCA
XM_011527205.2:c.46-48_46-47insCA	XP_011525507.1:n.46-48_46-47insCA
XR_001753735.1:n.129-48_129-47insCA
NM_000540.3:c.46-48_46-47insCA MANE Select	NP_000531.2:n.46-48_46-47insCA
NM_001042723.2:c.46-48_46-47insCA	NP_001036188.1:n.46-48_46-47insCA