Canonical Allele Identifier: CA405693160

Gene: RYR1

Linked Data

• gnomAD v4: 19-38586158-A-C
• MyVariant Identifiers: chr19:g.39076798A>C (hg19) ; chr19:g.38586158A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586158A>C , CM000681.2:g.38586158A>C	GRCh38
NC_000019.9:g.39076798A>C , CM000681.1:g.39076798A>C	GRCh37
NC_000019.8:g.43768638A>C	NCBI36
NG_008866.1:g.157459A>C , LRG_766:g.157459A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1872A>C
ENST00000688602.1:c.3269A>C
ENST00000689936.1:c.3241A>C
ENST00000692547.1:n.329A>C
ENST00000359596.8:c.14936A>C MANE Select	ENSP00000352608.2:p.His4979Pro
ENST00000355481.8:c.14921A>C	ENSP00000347667.3:p.His4974Pro
ENST00000359596.7:c.14936A>C	ENSP00000352608.2:p.His4979Pro
ENST00000360985.7:c.14918A>C	ENSP00000354254.4:p.His4973Pro
NM_000540.2:c.14936A>C , LRG_766t1:c.14936A>C	NP_000531.2:p.His4979Pro
NM_001042723.1:c.14921A>C	NP_001036188.1:p.His4974Pro
XM_006723317.1:c.14918A>C	XP_006723380.1:p.His4973Pro
XM_006723319.1:c.14903A>C	XP_006723382.1:p.His4968Pro
XM_011527204.1:c.14933A>C	XP_011525506.1:p.His4978Pro
XM_011527205.1:c.14849A>C	XP_011525507.1:p.His4950Pro
XM_006723317.2:c.14918A>C	XP_006723380.1:p.His4973Pro
XM_006723319.2:c.14903A>C	XP_006723382.1:p.His4968Pro
XM_011527205.2:c.14849A>C	XP_011525507.1:p.His4950Pro
NM_000540.3:c.14936A>C MANE Select	NP_000531.2:p.His4979Pro
NM_001042723.2:c.14921A>C	NP_001036188.1:p.His4974Pro