Canonical Allele Identifier: CA405673558

Gene: RYR1

Linked Data

• ClinVar Variation Id: 852305
• ClinVar RCV Id: RCV001056885
• dbSNP Id: rs1973363499
• gnomAD v3: 19-38565454-G-A
• gnomAD v4: 19-38565454-G-A
• MyVariant Identifiers: chr19:g.39056094G>A (hg19) ; chr19:g.38565454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565454G>A , CM000681.2:g.38565454G>A	GRCh38
NC_000019.9:g.39056094G>A , CM000681.1:g.39056094G>A	GRCh37
NC_000019.8:g.43747934G>A	NCBI36
NG_008866.1:g.136755G>A , LRG_766:g.136755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.56G>A
ENST00000688602.1:c.1530G>A
ENST00000689936.1:c.1512G>A
ENST00000359596.8:c.13120G>A MANE Select	ENSP00000352608.2:p.Val4374Met
ENST00000355481.8:c.13105G>A	ENSP00000347667.3:p.Val4369Met
ENST00000359596.7:c.13120G>A	ENSP00000352608.2:p.Val4374Met
ENST00000360985.7:c.13102G>A	ENSP00000354254.4:p.Val4368Met
NM_000540.2:c.13120G>A , LRG_766t1:c.13120G>A	NP_000531.2:p.Val4374Met
NM_001042723.1:c.13105G>A	NP_001036188.1:p.Val4369Met
XM_006723317.1:c.13102G>A	XP_006723380.1:p.Val4368Met
XM_006723319.1:c.13087G>A	XP_006723382.1:p.Val4363Met
XM_011527204.1:c.13117G>A	XP_011525506.1:p.Val4373Met
XM_011527205.1:c.13120G>A	XP_011525507.1:p.Val4374Met
XM_006723317.2:c.13102G>A	XP_006723380.1:p.Val4368Met
XM_006723319.2:c.13087G>A	XP_006723382.1:p.Val4363Met
XM_011527205.2:c.13120G>A	XP_011525507.1:p.Val4374Met
NM_000540.3:c.13120G>A MANE Select	NP_000531.2:p.Val4374Met
NM_001042723.2:c.13105G>A	NP_001036188.1:p.Val4369Met