Canonical Allele Identifier: CA405688027

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1385005
• ClinVar RCV Id: RCV001924966
• dbSNP Id: rs1974153045
• MyVariant Identifiers: chr19:g.39071121A>C (hg19) ; chr19:g.38580481A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580481A>C , CM000681.2:g.38580481A>C	GRCh38
NC_000019.9:g.39071121A>C , CM000681.1:g.39071121A>C	GRCh37
NC_000019.8:g.43762961A>C	NCBI36
NG_008866.1:g.151782A>C , LRG_766:g.151782A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1559A>C
ENST00000688602.1:c.2956A>C
ENST00000689936.1:c.2928A>C
ENST00000359596.8:c.14623A>C MANE Select	ENSP00000352608.2:p.Met4875Leu
ENST00000355481.8:c.14608A>C	ENSP00000347667.3:p.Met4870Leu
ENST00000359596.7:c.14623A>C	ENSP00000352608.2:p.Met4875Leu
ENST00000360985.7:c.14605A>C	ENSP00000354254.4:p.Met4869Leu
NM_000540.2:c.14623A>C , LRG_766t1:c.14623A>C	NP_000531.2:p.Met4875Leu
NM_001042723.1:c.14608A>C	NP_001036188.1:p.Met4870Leu
XM_006723317.1:c.14605A>C	XP_006723380.1:p.Met4869Leu
XM_006723319.1:c.14590A>C	XP_006723382.1:p.Met4864Leu
XM_011527204.1:c.14620A>C	XP_011525506.1:p.Met4874Leu
XM_011527205.1:c.14536A>C	XP_011525507.1:p.Met4846Leu
XM_006723317.2:c.14605A>C	XP_006723380.1:p.Met4869Leu
XM_006723319.2:c.14590A>C	XP_006723382.1:p.Met4864Leu
XM_011527205.2:c.14536A>C	XP_011525507.1:p.Met4846Leu
NM_000540.3:c.14623A>C MANE Select	NP_000531.2:p.Met4875Leu
NM_001042723.2:c.14608A>C	NP_001036188.1:p.Met4870Leu