Canonical Allele Identifier: CA057915

Gene: RYR1

Linked Data

• dbSNP Id: rs373863791
• ExAC: 19:39034371 G / A
• gnomAD v2: 19-39034371-G-A
• gnomAD v4: 19-38543731-G-A
• MyVariant Identifiers: chr19:g.39034371G>A (hg19) ; chr19:g.38543731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543731G>A , CM000681.2:g.38543731G>A	GRCh38
NC_000019.9:g.39034371G>A , CM000681.1:g.39034371G>A	GRCh37
NC_000019.8:g.43726211G>A	NCBI36
NG_008866.1:g.115032G>A , LRG_766:g.115032G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.318-40G>A
ENST00000689936.1:c.300-40G>A
ENST00000359596.8:c.11908-40G>A MANE Select	ENSP00000352608.2:n.11908-40G>A
ENST00000355481.8:c.11893-40G>A	ENSP00000347667.3:n.11893-40G>A
ENST00000359596.7:c.11908-40G>A	ENSP00000352608.2:n.11908-40G>A
ENST00000360985.7:c.11890-40G>A	ENSP00000354254.4:n.11890-40G>A
ENST00000593322.1:c.517-40G>A
ENST00000594335.5:c.5277-40G>A
NM_000540.2:c.11908-40G>A , LRG_766t1:c.11908-40G>A	NP_000531.2:n.11908-40G>A
NM_001042723.1:c.11893-40G>A	NP_001036188.1:n.11893-40G>A
XM_006723317.1:c.11890-40G>A	XP_006723380.1:n.11890-40G>A
XM_006723319.1:c.11875-40G>A	XP_006723382.1:n.11875-40G>A
XM_011527204.1:c.11905-40G>A	XP_011525506.1:n.11905-40G>A
XM_011527205.1:c.11908-40G>A	XP_011525507.1:n.11908-40G>A
XM_006723317.2:c.11890-40G>A	XP_006723380.1:n.11890-40G>A
XM_006723319.2:c.11875-40G>A	XP_006723382.1:n.11875-40G>A
XM_011527205.2:c.11908-40G>A	XP_011525507.1:n.11908-40G>A
NM_000540.3:c.11908-40G>A MANE Select	NP_000531.2:n.11908-40G>A
NM_001042723.2:c.11893-40G>A	NP_001036188.1:n.11893-40G>A