Canonical Allele Identifier: CA405687206

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070710C>A (hg19) ; chr19:g.38580070C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580070C>A , CM000681.2:g.38580070C>A	GRCh38
NC_000019.9:g.39070710C>A , CM000681.1:g.39070710C>A	GRCh37
NC_000019.8:g.43762550C>A	NCBI36
NG_008866.1:g.151371C>A , LRG_766:g.151371C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1389C>A
ENST00000688602.1:c.2786C>A
ENST00000689936.1:c.2758C>A
ENST00000359596.8:c.14453C>A MANE Select	ENSP00000352608.2:p.Ala4818Asp
ENST00000355481.8:c.14438C>A	ENSP00000347667.3:p.Ala4813Asp
ENST00000359596.7:c.14453C>A	ENSP00000352608.2:p.Ala4818Asp
ENST00000360985.7:c.14435C>A	ENSP00000354254.4:p.Ala4812Asp
NM_000540.2:c.14453C>A , LRG_766t1:c.14453C>A	NP_000531.2:p.Ala4818Asp
NM_001042723.1:c.14438C>A	NP_001036188.1:p.Ala4813Asp
XM_006723317.1:c.14435C>A	XP_006723380.1:p.Ala4812Asp
XM_006723319.1:c.14420C>A	XP_006723382.1:p.Ala4807Asp
XM_011527204.1:c.14450C>A	XP_011525506.1:p.Ala4817Asp
XM_011527205.1:c.14366C>A	XP_011525507.1:p.Ala4789Asp
XM_006723317.2:c.14435C>A	XP_006723380.1:p.Ala4812Asp
XM_006723319.2:c.14420C>A	XP_006723382.1:p.Ala4807Asp
XM_011527205.2:c.14366C>A	XP_011525507.1:p.Ala4789Asp
NM_000540.3:c.14453C>A MANE Select	NP_000531.2:p.Ala4818Asp
NM_001042723.2:c.14438C>A	NP_001036188.1:p.Ala4813Asp