Canonical Allele Identifier: CA10605744

Gene: RYR1

Linked Data

• ClinVar Variation Id: 287319
• ClinVar RCV Id: RCV000296266 ; RCV000344212 ; RCV000400884 ; RCV000388448 ; RCV000549654 ; RCV000721315
• dbSNP Id: rs867851900
• gnomAD v2: 19-39056343-A-T
• gnomAD v3: 19-38565703-A-T
• gnomAD v4: 19-38565703-A-T
• MyVariant Identifiers: chr19:g.39056343A>T (hg19) ; chr19:g.38565703A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565703A>T , CM000681.2:g.38565703A>T	GRCh38
NC_000019.9:g.39056343A>T , CM000681.1:g.39056343A>T	GRCh37
NC_000019.8:g.43748183A>T	NCBI36
NG_008866.1:g.137004A>T , LRG_766:g.137004A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.305A>T
ENST00000688602.1:c.1779A>T
ENST00000689936.1:c.1761A>T
ENST00000359596.8:c.13369A>T MANE Select	ENSP00000352608.2:p.Met4457Leu
ENST00000355481.8:c.13354A>T	ENSP00000347667.3:p.Met4452Leu
ENST00000359596.7:c.13369A>T	ENSP00000352608.2:p.Met4457Leu
ENST00000360985.7:c.13351A>T	ENSP00000354254.4:p.Met4451Leu
NM_000540.2:c.13369A>T , LRG_766t1:c.13369A>T	NP_000531.2:p.Met4457Leu
NM_001042723.1:c.13354A>T	NP_001036188.1:p.Met4452Leu
XM_006723317.1:c.13351A>T	XP_006723380.1:p.Met4451Leu
XM_006723319.1:c.13336A>T	XP_006723382.1:p.Met4446Leu
XM_011527204.1:c.13366A>T	XP_011525506.1:p.Met4456Leu
XM_011527205.1:c.13369A>T	XP_011525507.1:p.Met4457Leu
XM_006723317.2:c.13351A>T	XP_006723380.1:p.Met4451Leu
XM_006723319.2:c.13336A>T	XP_006723382.1:p.Met4446Leu
XM_011527205.2:c.13369A>T	XP_011525507.1:p.Met4457Leu
NM_000540.3:c.13369A>T MANE Select	NP_000531.2:p.Met4457Leu
NM_001042723.2:c.13354A>T	NP_001036188.1:p.Met4452Leu