Canonical Allele Identifier: CA891863041

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590457
• ClinVar RCV Id: RCV000721381
• dbSNP Id: rs1568605049
• MyVariant Identifiers: chr19:g.39071043_39071069dup (hg19) ; chr19:g.38580403_38580429dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580403_38580429dup , CM000681.2:g.38580403_38580429dup	GRCh38
NC_000019.9:g.39071043_39071069dup , CM000681.1:g.39071043_39071069dup	GRCh37
NC_000019.8:g.43762883_43762909dup	NCBI36
NG_008866.1:g.151704_151730dup , LRG_766:g.151704_151730dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1481_1507dup
ENST00000688602.1:c.2878_2904dup
ENST00000689936.1:c.2850_2876dup
ENST00000359596.8:c.14545_14571dup MANE Select	ENSP00000352608.2:p.Phe4857_Asn4858insVal...
ENST00000355481.8:c.14530_14556dup	ENSP00000347667.3:p.Phe4852_Asn4853insVal...
ENST00000359596.7:c.14545_14571dup	ENSP00000352608.2:p.Phe4857_Asn4858insVal...
ENST00000360985.7:c.14527_14553dup	ENSP00000354254.4:p.Phe4851_Asn4852insVal...
NM_000540.2:c.14545_14571dup , LRG_766t1:c.14545_14571dup	NP_000531.2:p.Phe4857_Asn4858insValTyrLeu...
NM_001042723.1:c.14530_14556dup	NP_001036188.1:p.Phe4852_Asn4853insValTyr...
XM_006723317.1:c.14527_14553dup	XP_006723380.1:p.Phe4851_Asn4852insValTyr...
XM_006723319.1:c.14512_14538dup	XP_006723382.1:p.Phe4846_Asn4847insValTyr...
XM_011527204.1:c.14542_14568dup	XP_011525506.1:p.Phe4856_Asn4857insValTyr...
XM_011527205.1:c.14458_14484dup	XP_011525507.1:p.Phe4828_Asn4829insValTyr...
XM_006723317.2:c.14527_14553dup	XP_006723380.1:p.Phe4851_Asn4852insValTyr...
XM_006723319.2:c.14512_14538dup	XP_006723382.1:p.Phe4846_Asn4847insValTyr...
XM_011527205.2:c.14458_14484dup	XP_011525507.1:p.Phe4828_Asn4829insValTyr...
NM_000540.3:c.14545_14571dup MANE Select	NP_000531.2:p.Phe4857_Asn4858insValTyrLeu...
NM_001042723.2:c.14530_14556dup	NP_001036188.1:p.Phe4852_Asn4853insValTyr...