Canonical Allele Identifier: CA405662457

Gene: RYR1

Linked Data

• dbSNP Id: rs1239411531
• gnomAD v3: 19-38543647-C-A
• gnomAD v4: 19-38543647-C-A
• MyVariant Identifiers: chr19:g.39034287C>A (hg19) ; chr19:g.38543647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543647C>A , CM000681.2:g.38543647C>A	GRCh38
NC_000019.9:g.39034287C>A , CM000681.1:g.39034287C>A	GRCh37
NC_000019.8:g.43726127C>A	NCBI36
NG_008866.1:g.114948C>A , LRG_766:g.114948C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.304C>A
ENST00000689936.1:c.286C>A
ENST00000359596.8:c.11894C>A MANE Select	ENSP00000352608.2:p.Thr3965Asn
ENST00000355481.8:c.11879C>A	ENSP00000347667.3:p.Thr3960Asn
ENST00000359596.7:c.11894C>A	ENSP00000352608.2:p.Thr3965Asn
ENST00000360985.7:c.11876C>A	ENSP00000354254.4:p.Thr3959Asn
ENST00000593322.1:c.503C>A
ENST00000594335.5:c.5263C>A
NM_000540.2:c.11894C>A , LRG_766t1:c.11894C>A	NP_000531.2:p.Thr3965Asn
NM_001042723.1:c.11879C>A	NP_001036188.1:p.Thr3960Asn
XM_006723317.1:c.11876C>A	XP_006723380.1:p.Thr3959Asn
XM_006723319.1:c.11861C>A	XP_006723382.1:p.Thr3954Asn
XM_011527204.1:c.11891C>A	XP_011525506.1:p.Thr3964Asn
XM_011527205.1:c.11894C>A	XP_011525507.1:p.Thr3965Asn
XM_006723317.2:c.11876C>A	XP_006723380.1:p.Thr3959Asn
XM_006723319.2:c.11861C>A	XP_006723382.1:p.Thr3954Asn
XM_011527205.2:c.11894C>A	XP_011525507.1:p.Thr3965Asn
NM_000540.3:c.11894C>A MANE Select	NP_000531.2:p.Thr3965Asn
NM_001042723.2:c.11879C>A	NP_001036188.1:p.Thr3960Asn