Canonical Allele Identifier: CA507245183

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063930A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573290A>C , CM000681.2:g.38573290A>C	GRCh38
NC_000019.9:g.39063930A>C , CM000681.1:g.39063930A>C	GRCh37
NC_000019.8:g.43755770A>C	NCBI36
NG_008866.1:g.144591A>C , LRG_766:g.144591A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1048A>C
ENST00000688602.1:c.2445A>C
ENST00000689936.1:c.2417A>C
ENST00000359596.8:c.14112A>C MANE Select	ENSP00000352608.2:p.Arg4704=
ENST00000355481.8:c.14097A>C	ENSP00000347667.3:p.Arg4699=
ENST00000359596.7:c.14112A>C	ENSP00000352608.2:p.Arg4704=
ENST00000360985.7:c.14094A>C	ENSP00000354254.4:p.Arg4698=
NM_000540.2:c.14112A>C , LRG_766t1:c.14112A>C	NP_000531.2:p.Arg4704=
NM_001042723.1:c.14097A>C	NP_001036188.1:p.Arg4699=
XM_006723317.1:c.14094A>C	XP_006723380.1:p.Arg4698=
XM_006723319.1:c.14079A>C	XP_006723382.1:p.Arg4693=
XM_011527204.1:c.14109A>C	XP_011525506.1:p.Arg4703=
XM_011527205.1:c.14025A>C	XP_011525507.1:p.Arg4675=
XM_006723317.2:c.14094A>C	XP_006723380.1:p.Arg4698=
XM_006723319.2:c.14079A>C	XP_006723382.1:p.Arg4693=
XM_011527205.2:c.14025A>C	XP_011525507.1:p.Arg4675=
NM_000540.3:c.14112A>C MANE Select	NP_000531.2:p.Arg4704=
NM_001042723.2:c.14097A>C	NP_001036188.1:p.Arg4699=