Canonical Allele Identifier: CA405662255

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034268C>A (hg19) ; chr19:g.38543628C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543628C>A , CM000681.2:g.38543628C>A	GRCh38
NC_000019.9:g.39034268C>A , CM000681.1:g.39034268C>A	GRCh37
NC_000019.8:g.43726108C>A	NCBI36
NG_008866.1:g.114929C>A , LRG_766:g.114929C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.285C>A
ENST00000689936.1:c.267C>A
ENST00000359596.8:c.11875C>A MANE Select	ENSP00000352608.2:p.Gln3959Lys
ENST00000355481.8:c.11860C>A	ENSP00000347667.3:p.Gln3954Lys
ENST00000359596.7:c.11875C>A	ENSP00000352608.2:p.Gln3959Lys
ENST00000360985.7:c.11857C>A	ENSP00000354254.4:p.Gln3953Lys
ENST00000593322.1:c.484C>A
ENST00000594335.5:c.5244C>A
NM_000540.2:c.11875C>A , LRG_766t1:c.11875C>A	NP_000531.2:p.Gln3959Lys
NM_001042723.1:c.11860C>A	NP_001036188.1:p.Gln3954Lys
XM_006723317.1:c.11857C>A	XP_006723380.1:p.Gln3953Lys
XM_006723319.1:c.11842C>A	XP_006723382.1:p.Gln3948Lys
XM_011527204.1:c.11872C>A	XP_011525506.1:p.Gln3958Lys
XM_011527205.1:c.11875C>A	XP_011525507.1:p.Gln3959Lys
XM_006723317.2:c.11857C>A	XP_006723380.1:p.Gln3953Lys
XM_006723319.2:c.11842C>A	XP_006723382.1:p.Gln3948Lys
XM_011527205.2:c.11875C>A	XP_011525507.1:p.Gln3959Lys
NM_000540.3:c.11875C>A MANE Select	NP_000531.2:p.Gln3959Lys
NM_001042723.2:c.11860C>A	NP_001036188.1:p.Gln3954Lys