Canonical Allele Identifier: CA061382

Gene: RYR1

Linked Data

• ClinVar Variation Id: 508816
• ClinVar RCV Id: RCV000721379 ; RCV001081890 ; RCV001132277 ; RCV001132278 ; RCV001132279
• dbSNP Id: rs763954439
• ExAC: 19:39071036 G / C
• gnomAD v2: 19-39071036-G-C
• gnomAD v3: 19-38580396-G-C
• gnomAD v4: 19-38580396-G-C
• MyVariant Identifiers: chr19:g.39071036G>C (hg19) ; chr19:g.38580396G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580396G>C , CM000681.2:g.38580396G>C	GRCh38
NC_000019.9:g.39071036G>C , CM000681.1:g.39071036G>C	GRCh37
NC_000019.8:g.43762876G>C	NCBI36
NG_008866.1:g.151697G>C , LRG_766:g.151697G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1474G>C
ENST00000688602.1:c.2871G>C
ENST00000689936.1:c.2843G>C
ENST00000359596.8:c.14538G>C MANE Select	ENSP00000352608.2:p.Ala4846=
ENST00000355481.8:c.14523G>C	ENSP00000347667.3:p.Ala4841=
ENST00000359596.7:c.14538G>C	ENSP00000352608.2:p.Ala4846=
ENST00000360985.7:c.14520G>C	ENSP00000354254.4:p.Ala4840=
NM_000540.2:c.14538G>C , LRG_766t1:c.14538G>C	NP_000531.2:p.Ala4846=
NM_001042723.1:c.14523G>C	NP_001036188.1:p.Ala4841=
XM_006723317.1:c.14520G>C	XP_006723380.1:p.Ala4840=
XM_006723319.1:c.14505G>C	XP_006723382.1:p.Ala4835=
XM_011527204.1:c.14535G>C	XP_011525506.1:p.Ala4845=
XM_011527205.1:c.14451G>C	XP_011525507.1:p.Ala4817=
XM_006723317.2:c.14520G>C	XP_006723380.1:p.Ala4840=
XM_006723319.2:c.14505G>C	XP_006723382.1:p.Ala4835=
XM_011527205.2:c.14451G>C	XP_011525507.1:p.Ala4817=
NM_000540.3:c.14538G>C MANE Select	NP_000531.2:p.Ala4846=
NM_001042723.2:c.14523G>C	NP_001036188.1:p.Ala4841=