Canonical Allele Identifier: CA405666292

Gene: RYR1

Linked Data

• dbSNP Id: rs1396511933
• gnomAD v2: 19-38987112-A-C
• gnomAD v4: 19-38496472-A-C
• MyVariant Identifiers: chr19:g.38987112A>C (hg19) ; chr19:g.38496472A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496472A>C , CM000681.2:g.38496472A>C	GRCh38
NC_000019.9:g.38987112A>C , CM000681.1:g.38987112A>C	GRCh37
NC_000019.8:g.43678952A>C	NCBI36
NG_008866.1:g.67773A>C , LRG_766:g.67773A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.6727A>C	ENSP00000471601.2:p.Ser2243Arg
ENST00000359596.8:c.6727A>C MANE Select	ENSP00000352608.2:p.Ser2243Arg
ENST00000355481.8:c.6727A>C	ENSP00000347667.3:p.Ser2243Arg
ENST00000359596.7:c.6727A>C	ENSP00000352608.2:p.Ser2243Arg
ENST00000360985.7:c.6724A>C	ENSP00000354254.4:p.Ser2242Arg
ENST00000594335.5:c.179A>C
NM_000540.2:c.6727A>C , LRG_766t1:c.6727A>C	NP_000531.2:p.Ser2243Arg
NM_001042723.1:c.6727A>C	NP_001036188.1:p.Ser2243Arg
XM_006723317.1:c.6727A>C	XP_006723380.1:p.Ser2243Arg
XM_006723319.1:c.6727A>C	XP_006723382.1:p.Ser2243Arg
XM_011527204.1:c.6724A>C	XP_011525506.1:p.Ser2242Arg
XM_011527205.1:c.6727A>C	XP_011525507.1:p.Ser2243Arg
XM_006723317.2:c.6727A>C	XP_006723380.1:p.Ser2243Arg
XM_006723319.2:c.6727A>C	XP_006723382.1:p.Ser2243Arg
XM_011527205.2:c.6727A>C	XP_011525507.1:p.Ser2243Arg
XR_001753735.1:n.6810A>C
NM_000540.3:c.6727A>C MANE Select	NP_000531.2:p.Ser2243Arg
NM_001042723.2:c.6727A>C	NP_001036188.1:p.Ser2243Arg