Canonical Allele Identifier: CA405681275

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062856C>A (hg19) ; chr19:g.38572216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572216C>A , CM000681.2:g.38572216C>A	GRCh38
NC_000019.9:g.39062856C>A , CM000681.1:g.39062856C>A	GRCh37
NC_000019.8:g.43754696C>A	NCBI36
NG_008866.1:g.143517C>A , LRG_766:g.143517C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.880C>A
ENST00000688602.1:c.2277C>A
ENST00000689936.1:c.2249C>A
ENST00000359596.8:c.13944C>A MANE Select	ENSP00000352608.2:p.Ser4648Arg
ENST00000355481.8:c.13929C>A	ENSP00000347667.3:p.Ser4643Arg
ENST00000359596.7:c.13944C>A	ENSP00000352608.2:p.Ser4648Arg
ENST00000360985.7:c.13926C>A	ENSP00000354254.4:p.Ser4642Arg
ENST00000593677.1:c.404C>A
NM_000540.2:c.13944C>A , LRG_766t1:c.13944C>A	NP_000531.2:p.Ser4648Arg
NM_001042723.1:c.13929C>A	NP_001036188.1:p.Ser4643Arg
XM_006723317.1:c.13926C>A	XP_006723380.1:p.Ser4642Arg
XM_006723319.1:c.13911C>A	XP_006723382.1:p.Ser4637Arg
XM_011527204.1:c.13941C>A	XP_011525506.1:p.Ser4647Arg
XM_011527205.1:c.13857C>A	XP_011525507.1:p.Ser4619Arg
XM_006723317.2:c.13926C>A	XP_006723380.1:p.Ser4642Arg
XM_006723319.2:c.13911C>A	XP_006723382.1:p.Ser4637Arg
XM_011527205.2:c.13857C>A	XP_011525507.1:p.Ser4619Arg
NM_000540.3:c.13944C>A MANE Select	NP_000531.2:p.Ser4648Arg
NM_001042723.2:c.13929C>A	NP_001036188.1:p.Ser4643Arg