Canonical Allele Identifier: CA308092405

Gene: RYR1

Linked Data

• dbSNP Id: rs765983380
• MyVariant Identifiers: chr19:g.39034455A>C (hg19) ; chr19:g.38543815A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543815A>C , CM000681.2:g.38543815A>C	GRCh38
NC_000019.9:g.39034455A>C , CM000681.1:g.39034455A>C	GRCh37
NC_000019.8:g.43726295A>C	NCBI36
NG_008866.1:g.115116A>C , LRG_766:g.115116A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.362A>C
ENST00000689936.1:c.344A>C
ENST00000359596.8:c.11952A>C MANE Select	ENSP00000352608.2:p.Leu3984=
ENST00000355481.8:c.11937A>C	ENSP00000347667.3:p.Leu3979=
ENST00000359596.7:c.11952A>C	ENSP00000352608.2:p.Leu3984=
ENST00000360985.7:c.11934A>C	ENSP00000354254.4:p.Leu3978=
ENST00000593322.1:c.561A>C
ENST00000594335.5:c.5321A>C
NM_000540.2:c.11952A>C , LRG_766t1:c.11952A>C	NP_000531.2:p.Leu3984=
NM_001042723.1:c.11937A>C	NP_001036188.1:p.Leu3979=
XM_006723317.1:c.11934A>C	XP_006723380.1:p.Leu3978=
XM_006723319.1:c.11919A>C	XP_006723382.1:p.Leu3973=
XM_011527204.1:c.11949A>C	XP_011525506.1:p.Leu3983=
XM_011527205.1:c.11952A>C	XP_011525507.1:p.Leu3984=
XM_006723317.2:c.11934A>C	XP_006723380.1:p.Leu3978=
XM_006723319.2:c.11919A>C	XP_006723382.1:p.Leu3973=
XM_011527205.2:c.11952A>C	XP_011525507.1:p.Leu3984=
NM_000540.3:c.11952A>C MANE Select	NP_000531.2:p.Leu3984=
NM_001042723.2:c.11937A>C	NP_001036188.1:p.Leu3979=