Canonical Allele Identifier: CA405686844

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070635T>A (hg19) ; chr19:g.38579995T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579995T>A , CM000681.2:g.38579995T>A	GRCh38
NC_000019.9:g.39070635T>A , CM000681.1:g.39070635T>A	GRCh37
NC_000019.8:g.43762475T>A	NCBI36
NG_008866.1:g.151296T>A , LRG_766:g.151296T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1314T>A
ENST00000688602.1:c.2711T>A
ENST00000689936.1:c.2683T>A
ENST00000359596.8:c.14378T>A MANE Select	ENSP00000352608.2:p.Leu4793Gln
ENST00000355481.8:c.14363T>A	ENSP00000347667.3:p.Leu4788Gln
ENST00000359596.7:c.14378T>A	ENSP00000352608.2:p.Leu4793Gln
ENST00000360985.7:c.14360T>A	ENSP00000354254.4:p.Leu4787Gln
NM_000540.2:c.14378T>A , LRG_766t1:c.14378T>A	NP_000531.2:p.Leu4793Gln
NM_001042723.1:c.14363T>A	NP_001036188.1:p.Leu4788Gln
XM_006723317.1:c.14360T>A	XP_006723380.1:p.Leu4787Gln
XM_006723319.1:c.14345T>A	XP_006723382.1:p.Leu4782Gln
XM_011527204.1:c.14375T>A	XP_011525506.1:p.Leu4792Gln
XM_011527205.1:c.14291T>A	XP_011525507.1:p.Leu4764Gln
XM_006723317.2:c.14360T>A	XP_006723380.1:p.Leu4787Gln
XM_006723319.2:c.14345T>A	XP_006723382.1:p.Leu4782Gln
XM_011527205.2:c.14291T>A	XP_011525507.1:p.Leu4764Gln
NM_000540.3:c.14378T>A MANE Select	NP_000531.2:p.Leu4793Gln
NM_001042723.2:c.14363T>A	NP_001036188.1:p.Leu4788Gln