Canonical Allele Identifier: CA405693003

Gene: RYR1

Linked Data

• dbSNP Id: rs747622915
• gnomAD v3: 19-38586139-C-G
• gnomAD v4: 19-38586139-C-G
• MyVariant Identifiers: chr19:g.39076779C>G (hg19) ; chr19:g.38586139C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586139C>G , CM000681.2:g.38586139C>G	GRCh38
NC_000019.9:g.39076779C>G , CM000681.1:g.39076779C>G	GRCh37
NC_000019.8:g.43768619C>G	NCBI36
NG_008866.1:g.157440C>G , LRG_766:g.157440C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1853C>G
ENST00000688602.1:c.3250C>G
ENST00000689936.1:c.3222C>G
ENST00000692547.1:n.310C>G
ENST00000359596.8:c.14917C>G MANE Select	ENSP00000352608.2:p.Pro4973Ala
ENST00000355481.8:c.14902C>G	ENSP00000347667.3:p.Pro4968Ala
ENST00000359596.7:c.14917C>G	ENSP00000352608.2:p.Pro4973Ala
ENST00000360985.7:c.14899C>G	ENSP00000354254.4:p.Pro4967Ala
NM_000540.2:c.14917C>G , LRG_766t1:c.14917C>G	NP_000531.2:p.Pro4973Ala
NM_001042723.1:c.14902C>G	NP_001036188.1:p.Pro4968Ala
XM_006723317.1:c.14899C>G	XP_006723380.1:p.Pro4967Ala
XM_006723319.1:c.14884C>G	XP_006723382.1:p.Pro4962Ala
XM_011527204.1:c.14914C>G	XP_011525506.1:p.Pro4972Ala
XM_011527205.1:c.14830C>G	XP_011525507.1:p.Pro4944Ala
XM_006723317.2:c.14899C>G	XP_006723380.1:p.Pro4967Ala
XM_006723319.2:c.14884C>G	XP_006723382.1:p.Pro4962Ala
XM_011527205.2:c.14830C>G	XP_011525507.1:p.Pro4944Ala
NM_000540.3:c.14917C>G MANE Select	NP_000531.2:p.Pro4973Ala
NM_001042723.2:c.14902C>G	NP_001036188.1:p.Pro4968Ala