Canonical Allele Identifier: CA405673620

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2977004
• ClinVar RCV Id: RCV003839138
• MyVariant Identifiers: chr19:g.39056106G>C (hg19) ; chr19:g.38565466G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565466G>C , CM000681.2:g.38565466G>C	GRCh38
NC_000019.9:g.39056106G>C , CM000681.1:g.39056106G>C	GRCh37
NC_000019.8:g.43747946G>C	NCBI36
NG_008866.1:g.136767G>C , LRG_766:g.136767G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.68G>C
ENST00000688602.1:c.1542G>C
ENST00000689936.1:c.1524G>C
ENST00000359596.8:c.13132G>C MANE Select	ENSP00000352608.2:p.Glu4378Gln
ENST00000355481.8:c.13117G>C	ENSP00000347667.3:p.Glu4373Gln
ENST00000359596.7:c.13132G>C	ENSP00000352608.2:p.Glu4378Gln
ENST00000360985.7:c.13114G>C	ENSP00000354254.4:p.Glu4372Gln
NM_000540.2:c.13132G>C , LRG_766t1:c.13132G>C	NP_000531.2:p.Glu4378Gln
NM_001042723.1:c.13117G>C	NP_001036188.1:p.Glu4373Gln
XM_006723317.1:c.13114G>C	XP_006723380.1:p.Glu4372Gln
XM_006723319.1:c.13099G>C	XP_006723382.1:p.Glu4367Gln
XM_011527204.1:c.13129G>C	XP_011525506.1:p.Glu4377Gln
XM_011527205.1:c.13132G>C	XP_011525507.1:p.Glu4378Gln
XM_006723317.2:c.13114G>C	XP_006723380.1:p.Glu4372Gln
XM_006723319.2:c.13099G>C	XP_006723382.1:p.Glu4367Gln
XM_011527205.2:c.13132G>C	XP_011525507.1:p.Glu4378Gln
NM_000540.3:c.13132G>C MANE Select	NP_000531.2:p.Glu4378Gln
NM_001042723.2:c.13117G>C	NP_001036188.1:p.Glu4373Gln