Canonical Allele Identifier: CA632869697

Gene: RYR1

Linked Data

• dbSNP Id: rs1392322737
• gnomAD v2: 19-39034365-C-T
• gnomAD v4: 19-38543725-C-T
• MyVariant Identifiers: chr19:g.39034365C>T (hg19) ; chr19:g.38543725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543725C>T , CM000681.2:g.38543725C>T	GRCh38
NC_000019.9:g.39034365C>T , CM000681.1:g.39034365C>T	GRCh37
NC_000019.8:g.43726205C>T	NCBI36
NG_008866.1:g.115026C>T , LRG_766:g.115026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.318-46C>T
ENST00000689936.1:c.300-46C>T
ENST00000359596.8:c.11908-46C>T MANE Select	ENSP00000352608.2:n.11908-46C>T
ENST00000355481.8:c.11893-46C>T	ENSP00000347667.3:n.11893-46C>T
ENST00000359596.7:c.11908-46C>T	ENSP00000352608.2:n.11908-46C>T
ENST00000360985.7:c.11890-46C>T	ENSP00000354254.4:n.11890-46C>T
ENST00000593322.1:c.517-46C>T
ENST00000594335.5:c.5277-46C>T
NM_000540.2:c.11908-46C>T , LRG_766t1:c.11908-46C>T	NP_000531.2:n.11908-46C>T
NM_001042723.1:c.11893-46C>T	NP_001036188.1:n.11893-46C>T
XM_006723317.1:c.11890-46C>T	XP_006723380.1:n.11890-46C>T
XM_006723319.1:c.11875-46C>T	XP_006723382.1:n.11875-46C>T
XM_011527204.1:c.11905-46C>T	XP_011525506.1:n.11905-46C>T
XM_011527205.1:c.11908-46C>T	XP_011525507.1:n.11908-46C>T
XM_006723317.2:c.11890-46C>T	XP_006723380.1:n.11890-46C>T
XM_006723319.2:c.11875-46C>T	XP_006723382.1:n.11875-46C>T
XM_011527205.2:c.11908-46C>T	XP_011525507.1:n.11908-46C>T
NM_000540.3:c.11908-46C>T MANE Select	NP_000531.2:n.11908-46C>T
NM_001042723.2:c.11893-46C>T	NP_001036188.1:n.11893-46C>T