Canonical Allele Identifier: CA405687014

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1043068
• ClinVar RCV Id: RCV001347122
• dbSNP Id: rs1248772829
• gnomAD v2: 19-39070671-A-G
• gnomAD v4: 19-38580031-A-G
• MyVariant Identifiers: chr19:g.39070671A>G (hg19) ; chr19:g.38580031A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580031A>G , CM000681.2:g.38580031A>G	GRCh38
NC_000019.9:g.39070671A>G , CM000681.1:g.39070671A>G	GRCh37
NC_000019.8:g.43762511A>G	NCBI36
NG_008866.1:g.151332A>G , LRG_766:g.151332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1350A>G
ENST00000688602.1:c.2747A>G
ENST00000689936.1:c.2719A>G
ENST00000359596.8:c.14414A>G MANE Select	ENSP00000352608.2:p.Tyr4805Cys
ENST00000355481.8:c.14399A>G	ENSP00000347667.3:p.Tyr4800Cys
ENST00000359596.7:c.14414A>G	ENSP00000352608.2:p.Tyr4805Cys
ENST00000360985.7:c.14396A>G	ENSP00000354254.4:p.Tyr4799Cys
NM_000540.2:c.14414A>G , LRG_766t1:c.14414A>G	NP_000531.2:p.Tyr4805Cys
NM_001042723.1:c.14399A>G	NP_001036188.1:p.Tyr4800Cys
XM_006723317.1:c.14396A>G	XP_006723380.1:p.Tyr4799Cys
XM_006723319.1:c.14381A>G	XP_006723382.1:p.Tyr4794Cys
XM_011527204.1:c.14411A>G	XP_011525506.1:p.Tyr4804Cys
XM_011527205.1:c.14327A>G	XP_011525507.1:p.Tyr4776Cys
XM_006723317.2:c.14396A>G	XP_006723380.1:p.Tyr4799Cys
XM_006723319.2:c.14381A>G	XP_006723382.1:p.Tyr4794Cys
XM_011527205.2:c.14327A>G	XP_011525507.1:p.Tyr4776Cys
NM_000540.3:c.14414A>G MANE Select	NP_000531.2:p.Tyr4805Cys
NM_001042723.2:c.14399A>G	NP_001036188.1:p.Tyr4800Cys