Canonical Allele Identifier: CA405681417

Gene: RYR1

Linked Data

• gnomAD v4: 19-38572235-G-T
• COSMIC: COSM5809248
• MyVariant Identifiers: chr19:g.39062875G>T (hg19) ; chr19:g.38572235G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572235G>T , CM000681.2:g.38572235G>T	GRCh38
NC_000019.9:g.39062875G>T , CM000681.1:g.39062875G>T	GRCh37
NC_000019.8:g.43754715G>T	NCBI36
NG_008866.1:g.143536G>T , LRG_766:g.143536G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.899G>T
ENST00000688602.1:c.2296G>T
ENST00000689936.1:c.2268G>T
ENST00000359596.8:c.13963G>T MANE Select	ENSP00000352608.2:p.Ala4655Ser
ENST00000355481.8:c.13948G>T	ENSP00000347667.3:p.Ala4650Ser
ENST00000359596.7:c.13963G>T	ENSP00000352608.2:p.Ala4655Ser
ENST00000360985.7:c.13945G>T	ENSP00000354254.4:p.Ala4649Ser
ENST00000593677.1:c.423G>T
NM_000540.2:c.13963G>T , LRG_766t1:c.13963G>T	NP_000531.2:p.Ala4655Ser
NM_001042723.1:c.13948G>T	NP_001036188.1:p.Ala4650Ser
XM_006723317.1:c.13945G>T	XP_006723380.1:p.Ala4649Ser
XM_006723319.1:c.13930G>T	XP_006723382.1:p.Ala4644Ser
XM_011527204.1:c.13960G>T	XP_011525506.1:p.Ala4654Ser
XM_011527205.1:c.13876G>T	XP_011525507.1:p.Ala4626Ser
XM_006723317.2:c.13945G>T	XP_006723380.1:p.Ala4649Ser
XM_006723319.2:c.13930G>T	XP_006723382.1:p.Ala4644Ser
XM_011527205.2:c.13876G>T	XP_011525507.1:p.Ala4626Ser
NM_000540.3:c.13963G>T MANE Select	NP_000531.2:p.Ala4655Ser
NM_001042723.2:c.13948G>T	NP_001036188.1:p.Ala4650Ser