Canonical Allele Identifier: CA405687424

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070756C>G (hg19) ; chr19:g.38580116C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580116C>G , CM000681.2:g.38580116C>G	GRCh38
NC_000019.9:g.39070756C>G , CM000681.1:g.39070756C>G	GRCh37
NC_000019.8:g.43762596C>G	NCBI36
NG_008866.1:g.151417C>G , LRG_766:g.151417C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1435C>G
ENST00000688602.1:c.2832C>G
ENST00000689936.1:c.2804C>G
ENST00000359596.8:c.14499C>G MANE Select	ENSP00000352608.2:p.His4833Gln
ENST00000355481.8:c.14484C>G	ENSP00000347667.3:p.His4828Gln
ENST00000359596.7:c.14499C>G	ENSP00000352608.2:p.His4833Gln
ENST00000360985.7:c.14481C>G	ENSP00000354254.4:p.His4827Gln
NM_000540.2:c.14499C>G , LRG_766t1:c.14499C>G	NP_000531.2:p.His4833Gln
NM_001042723.1:c.14484C>G	NP_001036188.1:p.His4828Gln
XM_006723317.1:c.14481C>G	XP_006723380.1:p.His4827Gln
XM_006723319.1:c.14466C>G	XP_006723382.1:p.His4822Gln
XM_011527204.1:c.14496C>G	XP_011525506.1:p.His4832Gln
XM_011527205.1:c.14412C>G	XP_011525507.1:p.His4804Gln
XM_006723317.2:c.14481C>G	XP_006723380.1:p.His4827Gln
XM_006723319.2:c.14466C>G	XP_006723382.1:p.His4822Gln
XM_011527205.2:c.14412C>G	XP_011525507.1:p.His4804Gln
NM_000540.3:c.14499C>G MANE Select	NP_000531.2:p.His4833Gln
NM_001042723.2:c.14484C>G	NP_001036188.1:p.His4828Gln