Canonical Allele Identifier: CA405693253

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076812C>G (hg19) ; chr19:g.38586172C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1886C>G
ENST00000688602.1:c.3283C>G
ENST00000689936.1:c.3255C>G
ENST00000692547.1:n.343C>G
ENST00000359596.8:c.14950C>G MANE Select	ENSP00000352608.2:p.His4984Asp
ENST00000355481.8:c.14935C>G	ENSP00000347667.3:p.His4979Asp
ENST00000359596.7:c.14950C>G	ENSP00000352608.2:p.His4984Asp
ENST00000360985.7:c.14932C>G	ENSP00000354254.4:p.His4978Asp
NM_000540.2:c.14950C>G , LRG_766t1:c.14950C>G	NP_000531.2:p.His4984Asp
NM_001042723.1:c.14935C>G	NP_001036188.1:p.His4979Asp
XM_006723317.1:c.14932C>G	XP_006723380.1:p.His4978Asp
XM_006723319.1:c.14917C>G	XP_006723382.1:p.His4973Asp
XM_011527204.1:c.14947C>G	XP_011525506.1:p.His4983Asp
XM_011527205.1:c.14863C>G	XP_011525507.1:p.His4955Asp
XM_006723317.2:c.14932C>G	XP_006723380.1:p.His4978Asp
XM_006723319.2:c.14917C>G	XP_006723382.1:p.His4973Asp
XM_011527205.2:c.14863C>G	XP_011525507.1:p.His4955Asp
NM_000540.3:c.14950C>G MANE Select	NP_000531.2:p.His4984Asp
NM_001042723.2:c.14935C>G	NP_001036188.1:p.His4979Asp