Canonical Allele Identifier: CA405694164

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39077997A>C (hg19) ; chr19:g.38587357A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587357A>C , CM000681.2:g.38587357A>C	GRCh38
NC_000019.9:g.39077997A>C , CM000681.1:g.39077997A>C	GRCh37
NC_000019.8:g.43769837A>C	NCBI36
NG_008866.1:g.158658A>C , LRG_766:g.158658A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1957+781A>C
ENST00000688602.1:c.3387A>C
ENST00000689936.1:c.3359A>C
ENST00000692547.1:n.447A>C
ENST00000359596.8:c.15054A>C MANE Select	ENSP00000352608.2:p.Arg5018Ser
ENST00000355481.8:c.15039A>C	ENSP00000347667.3:p.Arg5013Ser
ENST00000359596.7:c.15054A>C	ENSP00000352608.2:p.Arg5018Ser
ENST00000360985.7:c.15036A>C	ENSP00000354254.4:p.Arg5012Ser
NM_000540.2:c.15054A>C , LRG_766t1:c.15054A>C	NP_000531.2:p.Arg5018Ser
NM_001042723.1:c.15039A>C	NP_001036188.1:p.Arg5013Ser
XM_006723317.1:c.15036A>C	XP_006723380.1:p.Arg5012Ser
XM_006723319.1:c.15021A>C	XP_006723382.1:p.Arg5007Ser
XM_011527204.1:c.15051A>C	XP_011525506.1:p.Arg5017Ser
XM_011527205.1:c.14967A>C	XP_011525507.1:p.Arg4989Ser
XM_006723317.2:c.15036A>C	XP_006723380.1:p.Arg5012Ser
XM_006723319.2:c.15021A>C	XP_006723382.1:p.Arg5007Ser
XM_011527205.2:c.14967A>C	XP_011525507.1:p.Arg4989Ser
NM_000540.3:c.15054A>C MANE Select	NP_000531.2:p.Arg5018Ser
NM_001042723.2:c.15039A>C	NP_001036188.1:p.Arg5013Ser