Canonical Allele Identifier: CA405693306

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076817C>G (hg19) ; chr19:g.38586177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586177C>G , CM000681.2:g.38586177C>G	GRCh38
NC_000019.9:g.39076817C>G , CM000681.1:g.39076817C>G	GRCh37
NC_000019.8:g.43768657C>G	NCBI36
NG_008866.1:g.157478C>G , LRG_766:g.157478C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1891C>G
ENST00000688602.1:c.3288C>G
ENST00000689936.1:c.3260C>G
ENST00000692547.1:n.348C>G
ENST00000359596.8:c.14955C>G MANE Select	ENSP00000352608.2:p.Asn4985Lys
ENST00000355481.8:c.14940C>G	ENSP00000347667.3:p.Asn4980Lys
ENST00000359596.7:c.14955C>G	ENSP00000352608.2:p.Asn4985Lys
ENST00000360985.7:c.14937C>G	ENSP00000354254.4:p.Asn4979Lys
NM_000540.2:c.14955C>G , LRG_766t1:c.14955C>G	NP_000531.2:p.Asn4985Lys
NM_001042723.1:c.14940C>G	NP_001036188.1:p.Asn4980Lys
XM_006723317.1:c.14937C>G	XP_006723380.1:p.Asn4979Lys
XM_006723319.1:c.14922C>G	XP_006723382.1:p.Asn4974Lys
XM_011527204.1:c.14952C>G	XP_011525506.1:p.Asn4984Lys
XM_011527205.1:c.14868C>G	XP_011525507.1:p.Asn4956Lys
XM_006723317.2:c.14937C>G	XP_006723380.1:p.Asn4979Lys
XM_006723319.2:c.14922C>G	XP_006723382.1:p.Asn4974Lys
XM_011527205.2:c.14868C>G	XP_011525507.1:p.Asn4956Lys
NM_000540.3:c.14955C>G MANE Select	NP_000531.2:p.Asn4985Lys
NM_001042723.2:c.14940C>G	NP_001036188.1:p.Asn4980Lys