Canonical Allele Identifier: CA405694000

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39077975T>C (hg19) ; chr19:g.38587335T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587335T>C , CM000681.2:g.38587335T>C	GRCh38
NC_000019.9:g.39077975T>C , CM000681.1:g.39077975T>C	GRCh37
NC_000019.8:g.43769815T>C	NCBI36
NG_008866.1:g.158636T>C , LRG_766:g.158636T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+759T>C
ENST00000688602.1:c.3365T>C
ENST00000689936.1:c.3337T>C
ENST00000692547.1:n.425T>C
ENST00000359596.8:c.15032T>C MANE Select	ENSP00000352608.2:p.Val5011Ala
ENST00000355481.8:c.15017T>C	ENSP00000347667.3:p.Val5006Ala
ENST00000359596.7:c.15032T>C	ENSP00000352608.2:p.Val5011Ala
ENST00000360985.7:c.15014T>C	ENSP00000354254.4:p.Val5005Ala
NM_000540.2:c.15032T>C , LRG_766t1:c.15032T>C	NP_000531.2:p.Val5011Ala
NM_001042723.1:c.15017T>C	NP_001036188.1:p.Val5006Ala
XM_006723317.1:c.15014T>C	XP_006723380.1:p.Val5005Ala
XM_006723319.1:c.14999T>C	XP_006723382.1:p.Val5000Ala
XM_011527204.1:c.15029T>C	XP_011525506.1:p.Val5010Ala
XM_011527205.1:c.14945T>C	XP_011525507.1:p.Val4982Ala
XM_006723317.2:c.15014T>C	XP_006723380.1:p.Val5005Ala
XM_006723319.2:c.14999T>C	XP_006723382.1:p.Val5000Ala
XM_011527205.2:c.14945T>C	XP_011525507.1:p.Val4982Ala
NM_000540.3:c.15032T>C MANE Select	NP_000531.2:p.Val5011Ala
NM_001042723.2:c.15017T>C	NP_001036188.1:p.Val5006Ala