Canonical Allele Identifier: CA405674122

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565520-C-G
• MyVariant Identifiers: chr19:g.39056160C>G (hg19) ; chr19:g.38565520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565520C>G , CM000681.2:g.38565520C>G	GRCh38
NC_000019.9:g.39056160C>G , CM000681.1:g.39056160C>G	GRCh37
NC_000019.8:g.43748000C>G	NCBI36
NG_008866.1:g.136821C>G , LRG_766:g.136821C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.122C>G
ENST00000688602.1:c.1596C>G
ENST00000689936.1:c.1578C>G
ENST00000359596.8:c.13186C>G MANE Select	ENSP00000352608.2:p.Pro4396Ala
ENST00000355481.8:c.13171C>G	ENSP00000347667.3:p.Pro4391Ala
ENST00000359596.7:c.13186C>G	ENSP00000352608.2:p.Pro4396Ala
ENST00000360985.7:c.13168C>G	ENSP00000354254.4:p.Pro4390Ala
NM_000540.2:c.13186C>G , LRG_766t1:c.13186C>G	NP_000531.2:p.Pro4396Ala
NM_001042723.1:c.13171C>G	NP_001036188.1:p.Pro4391Ala
XM_006723317.1:c.13168C>G	XP_006723380.1:p.Pro4390Ala
XM_006723319.1:c.13153C>G	XP_006723382.1:p.Pro4385Ala
XM_011527204.1:c.13183C>G	XP_011525506.1:p.Pro4395Ala
XM_011527205.1:c.13186C>G	XP_011525507.1:p.Pro4396Ala
XM_006723317.2:c.13168C>G	XP_006723380.1:p.Pro4390Ala
XM_006723319.2:c.13153C>G	XP_006723382.1:p.Pro4385Ala
XM_011527205.2:c.13186C>G	XP_011525507.1:p.Pro4396Ala
NM_000540.3:c.13186C>G MANE Select	NP_000531.2:p.Pro4396Ala
NM_001042723.2:c.13171C>G	NP_001036188.1:p.Pro4391Ala