Canonical Allele Identifier: CA405681783

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063818T>G (hg19) ; chr19:g.38573178T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573178T>G , CM000681.2:g.38573178T>G	GRCh38
NC_000019.9:g.39063818T>G , CM000681.1:g.39063818T>G	GRCh37
NC_000019.8:g.43755658T>G	NCBI36
NG_008866.1:g.144479T>G , LRG_766:g.144479T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.936T>G
ENST00000688602.1:c.2333T>G
ENST00000689936.1:c.2305T>G
ENST00000359596.8:c.14000T>G MANE Select	ENSP00000352608.2:p.Val4667Gly
ENST00000355481.8:c.13985T>G	ENSP00000347667.3:p.Val4662Gly
ENST00000359596.7:c.14000T>G	ENSP00000352608.2:p.Val4667Gly
ENST00000360985.7:c.13982T>G	ENSP00000354254.4:p.Val4661Gly
NM_000540.2:c.14000T>G , LRG_766t1:c.14000T>G	NP_000531.2:p.Val4667Gly
NM_001042723.1:c.13985T>G	NP_001036188.1:p.Val4662Gly
XM_006723317.1:c.13982T>G	XP_006723380.1:p.Val4661Gly
XM_006723319.1:c.13967T>G	XP_006723382.1:p.Val4656Gly
XM_011527204.1:c.13997T>G	XP_011525506.1:p.Val4666Gly
XM_011527205.1:c.13913T>G	XP_011525507.1:p.Val4638Gly
XM_006723317.2:c.13982T>G	XP_006723380.1:p.Val4661Gly
XM_006723319.2:c.13967T>G	XP_006723382.1:p.Val4656Gly
XM_011527205.2:c.13913T>G	XP_011525507.1:p.Val4638Gly
NM_000540.3:c.14000T>G MANE Select	NP_000531.2:p.Val4667Gly
NM_001042723.2:c.13985T>G	NP_001036188.1:p.Val4662Gly