Canonical Allele Identifier: CA405693252

Gene: RYR1

Linked Data

• dbSNP Id: rs1250529914
• gnomAD v2: 19-39076812-C-A
• gnomAD v4: 19-38586172-C-A
• MyVariant Identifiers: chr19:g.39076812C>A (hg19) ; chr19:g.38586172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586172C>A , CM000681.2:g.38586172C>A	GRCh38
NC_000019.9:g.39076812C>A , CM000681.1:g.39076812C>A	GRCh37
NC_000019.8:g.43768652C>A	NCBI36
NG_008866.1:g.157473C>A , LRG_766:g.157473C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1886C>A
ENST00000688602.1:c.3283C>A
ENST00000689936.1:c.3255C>A
ENST00000692547.1:n.343C>A
ENST00000359596.8:c.14950C>A MANE Select	ENSP00000352608.2:p.His4984Asn
ENST00000355481.8:c.14935C>A	ENSP00000347667.3:p.His4979Asn
ENST00000359596.7:c.14950C>A	ENSP00000352608.2:p.His4984Asn
ENST00000360985.7:c.14932C>A	ENSP00000354254.4:p.His4978Asn
NM_000540.2:c.14950C>A , LRG_766t1:c.14950C>A	NP_000531.2:p.His4984Asn
NM_001042723.1:c.14935C>A	NP_001036188.1:p.His4979Asn
XM_006723317.1:c.14932C>A	XP_006723380.1:p.His4978Asn
XM_006723319.1:c.14917C>A	XP_006723382.1:p.His4973Asn
XM_011527204.1:c.14947C>A	XP_011525506.1:p.His4983Asn
XM_011527205.1:c.14863C>A	XP_011525507.1:p.His4955Asn
XM_006723317.2:c.14932C>A	XP_006723380.1:p.His4978Asn
XM_006723319.2:c.14917C>A	XP_006723382.1:p.His4973Asn
XM_011527205.2:c.14863C>A	XP_011525507.1:p.His4955Asn
NM_000540.3:c.14950C>A MANE Select	NP_000531.2:p.His4984Asn
NM_001042723.2:c.14935C>A	NP_001036188.1:p.His4979Asn