Canonical Allele Identifier: CA057813

Gene: RYR1

Linked Data

• dbSNP Id: rs775264042
• ExAC: 19:39034348 A / C
• gnomAD v2: 19-39034348-A-C
• MyVariant Identifiers: chr19:g.39034348A>C (hg19) ; chr19:g.38543708A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543708A>C , CM000681.2:g.38543708A>C	GRCh38
NC_000019.9:g.39034348A>C , CM000681.1:g.39034348A>C	GRCh37
NC_000019.8:g.43726188A>C	NCBI36
NG_008866.1:g.115009A>C , LRG_766:g.115009A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.317+48A>C
ENST00000689936.1:c.299+48A>C
ENST00000359596.8:c.11907+48A>C MANE Select	ENSP00000352608.2:n.11907+48A>C
ENST00000355481.8:c.11892+48A>C	ENSP00000347667.3:n.11892+48A>C
ENST00000359596.7:c.11907+48A>C	ENSP00000352608.2:n.11907+48A>C
ENST00000360985.7:c.11889+48A>C	ENSP00000354254.4:n.11889+48A>C
ENST00000593322.1:c.516+48A>C
ENST00000594335.5:c.5276+48A>C
NM_000540.2:c.11907+48A>C , LRG_766t1:c.11907+48A>C	NP_000531.2:n.11907+48A>C
NM_001042723.1:c.11892+48A>C	NP_001036188.1:n.11892+48A>C
XM_006723317.1:c.11889+48A>C	XP_006723380.1:n.11889+48A>C
XM_006723319.1:c.11874+48A>C	XP_006723382.1:n.11874+48A>C
XM_011527204.1:c.11904+48A>C	XP_011525506.1:n.11904+48A>C
XM_011527205.1:c.11907+48A>C	XP_011525507.1:n.11907+48A>C
XM_006723317.2:c.11889+48A>C	XP_006723380.1:n.11889+48A>C
XM_006723319.2:c.11874+48A>C	XP_006723382.1:n.11874+48A>C
XM_011527205.2:c.11907+48A>C	XP_011525507.1:n.11907+48A>C
NM_000540.3:c.11907+48A>C MANE Select	NP_000531.2:n.11907+48A>C
NM_001042723.2:c.11892+48A>C	NP_001036188.1:n.11892+48A>C