Canonical Allele Identifier: CA405663005

Gene: RYR1

Linked Data

• gnomAD v4: 19-38543860-G-A
• MyVariant Identifiers: chr19:g.39034500G>A (hg19) ; chr19:g.38543860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543860G>A , CM000681.2:g.38543860G>A	GRCh38
NC_000019.9:g.39034500G>A , CM000681.1:g.39034500G>A	GRCh37
NC_000019.8:g.43726340G>A	NCBI36
NG_008866.1:g.115161G>A , LRG_766:g.115161G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.407G>A
ENST00000689936.1:c.389G>A
ENST00000359596.8:c.11997G>A MANE Select	ENSP00000352608.2:p.Met3999Ile
ENST00000355481.8:c.11982G>A	ENSP00000347667.3:p.Met3994Ile
ENST00000359596.7:c.11997G>A	ENSP00000352608.2:p.Met3999Ile
ENST00000360985.7:c.11979G>A	ENSP00000354254.4:p.Met3993Ile
ENST00000593322.1:c.606G>A
ENST00000594335.5:c.5366G>A
NM_000540.2:c.11997G>A , LRG_766t1:c.11997G>A	NP_000531.2:p.Met3999Ile
NM_001042723.1:c.11982G>A	NP_001036188.1:p.Met3994Ile
XM_006723317.1:c.11979G>A	XP_006723380.1:p.Met3993Ile
XM_006723319.1:c.11964G>A	XP_006723382.1:p.Met3988Ile
XM_011527204.1:c.11994G>A	XP_011525506.1:p.Met3998Ile
XM_011527205.1:c.11997G>A	XP_011525507.1:p.Met3999Ile
XM_006723317.2:c.11979G>A	XP_006723380.1:p.Met3993Ile
XM_006723319.2:c.11964G>A	XP_006723382.1:p.Met3988Ile
XM_011527205.2:c.11997G>A	XP_011525507.1:p.Met3999Ile
NM_000540.3:c.11997G>A MANE Select	NP_000531.2:p.Met3999Ile
NM_001042723.2:c.11982G>A	NP_001036188.1:p.Met3994Ile