Canonical Allele Identifier: CA405661785

Gene: RYR1

Linked Data

• ClinVar Variation Id: 966746
• ClinVar RCV Id: RCV001241499
• dbSNP Id: rs1972295482
• MyVariant Identifiers: chr19:g.39034202T>C (hg19) ; chr19:g.38543562T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543562T>C , CM000681.2:g.38543562T>C	GRCh38
NC_000019.9:g.39034202T>C , CM000681.1:g.39034202T>C	GRCh37
NC_000019.8:g.43726042T>C	NCBI36
NG_008866.1:g.114863T>C , LRG_766:g.114863T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.219T>C
ENST00000689936.1:c.201T>C
ENST00000359596.8:c.11809T>C MANE Select	ENSP00000352608.2:p.Ser3937Pro
ENST00000355481.8:c.11794T>C	ENSP00000347667.3:p.Ser3932Pro
ENST00000359596.7:c.11809T>C	ENSP00000352608.2:p.Ser3937Pro
ENST00000360985.7:c.11791T>C	ENSP00000354254.4:p.Ser3931Pro
ENST00000593322.1:c.418T>C
ENST00000594335.5:c.5178T>C
NM_000540.2:c.11809T>C , LRG_766t1:c.11809T>C	NP_000531.2:p.Ser3937Pro
NM_001042723.1:c.11794T>C	NP_001036188.1:p.Ser3932Pro
XM_006723317.1:c.11791T>C	XP_006723380.1:p.Ser3931Pro
XM_006723319.1:c.11776T>C	XP_006723382.1:p.Ser3926Pro
XM_011527204.1:c.11806T>C	XP_011525506.1:p.Ser3936Pro
XM_011527205.1:c.11809T>C	XP_011525507.1:p.Ser3937Pro
XM_006723317.2:c.11791T>C	XP_006723380.1:p.Ser3931Pro
XM_006723319.2:c.11776T>C	XP_006723382.1:p.Ser3926Pro
XM_011527205.2:c.11809T>C	XP_011525507.1:p.Ser3937Pro
NM_000540.3:c.11809T>C MANE Select	NP_000531.2:p.Ser3937Pro
NM_001042723.2:c.11794T>C	NP_001036188.1:p.Ser3932Pro