Canonical Allele Identifier: CA507245123

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590445
• ClinVar RCV Id: RCV000721348 ; RCV002067074
• dbSNP Id: rs1568595617
• gnomAD v4: 19-38573185-G-A
• MyVariant Identifiers: chr19:g.39063825G>A (hg19) ; chr19:g.38573185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573185G>A , CM000681.2:g.38573185G>A	GRCh38
NC_000019.9:g.39063825G>A , CM000681.1:g.39063825G>A	GRCh37
NC_000019.8:g.43755665G>A	NCBI36
NG_008866.1:g.144486G>A , LRG_766:g.144486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.943G>A
ENST00000688602.1:c.2340G>A
ENST00000689936.1:c.2312G>A
ENST00000359596.8:c.14007G>A MANE Select	ENSP00000352608.2:p.Leu4669=
ENST00000355481.8:c.13992G>A	ENSP00000347667.3:p.Leu4664=
ENST00000359596.7:c.14007G>A	ENSP00000352608.2:p.Leu4669=
ENST00000360985.7:c.13989G>A	ENSP00000354254.4:p.Leu4663=
NM_000540.2:c.14007G>A , LRG_766t1:c.14007G>A	NP_000531.2:p.Leu4669=
NM_001042723.1:c.13992G>A	NP_001036188.1:p.Leu4664=
XM_006723317.1:c.13989G>A	XP_006723380.1:p.Leu4663=
XM_006723319.1:c.13974G>A	XP_006723382.1:p.Leu4658=
XM_011527204.1:c.14004G>A	XP_011525506.1:p.Leu4668=
XM_011527205.1:c.13920G>A	XP_011525507.1:p.Leu4640=
XM_006723317.2:c.13989G>A	XP_006723380.1:p.Leu4663=
XM_006723319.2:c.13974G>A	XP_006723382.1:p.Leu4658=
XM_011527205.2:c.13920G>A	XP_011525507.1:p.Leu4640=
NM_000540.3:c.14007G>A MANE Select	NP_000531.2:p.Leu4669=
NM_001042723.2:c.13992G>A	NP_001036188.1:p.Leu4664=