Canonical Allele Identifier: CA633066842

Gene: RYR1

Linked Data

• dbSNP Id: rs1452011718
• gnomAD v2: 19-39062931-C-T
• gnomAD v4: 19-38572291-C-T
• MyVariant Identifiers: chr19:g.39062931C>T (hg19) ; chr19:g.38572291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572291C>T , CM000681.2:g.38572291C>T	GRCh38
NC_000019.9:g.39062931C>T , CM000681.1:g.39062931C>T	GRCh37
NC_000019.8:g.43754771C>T	NCBI36
NG_008866.1:g.143592C>T , LRG_766:g.143592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+21C>T
ENST00000688602.1:c.2331+21C>T
ENST00000689936.1:c.2303+21C>T
ENST00000359596.8:c.13998+21C>T MANE Select	ENSP00000352608.2:n.13998+21C>T
ENST00000355481.8:c.13983+21C>T	ENSP00000347667.3:n.13983+21C>T
ENST00000359596.7:c.13998+21C>T	ENSP00000352608.2:n.13998+21C>T
ENST00000360985.7:c.13980+21C>T	ENSP00000354254.4:n.13980+21C>T
NM_000540.2:c.13998+21C>T , LRG_766t1:c.13998+21C>T	NP_000531.2:n.13998+21C>T
NM_001042723.1:c.13983+21C>T	NP_001036188.1:n.13983+21C>T
XM_006723317.1:c.13980+21C>T	XP_006723380.1:n.13980+21C>T
XM_006723319.1:c.13965+21C>T	XP_006723382.1:n.13965+21C>T
XM_011527204.1:c.13995+21C>T	XP_011525506.1:n.13995+21C>T
XM_011527205.1:c.13911+21C>T	XP_011525507.1:n.13911+21C>T
XM_006723317.2:c.13980+21C>T	XP_006723380.1:n.13980+21C>T
XM_006723319.2:c.13965+21C>T	XP_006723382.1:n.13965+21C>T
XM_011527205.2:c.13911+21C>T	XP_011525507.1:n.13911+21C>T
NM_000540.3:c.13998+21C>T MANE Select	NP_000531.2:n.13998+21C>T
NM_001042723.2:c.13983+21C>T	NP_001036188.1:n.13983+21C>T