Canonical Allele Identifier: CA061593

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585075G>A , CM000681.2:g.38585075G>A	GRCh38
NC_000019.9:g.39075715G>A , CM000681.1:g.39075715G>A	GRCh37
NC_000019.8:g.43767555G>A	NCBI36
NG_008866.1:g.156376G>A , LRG_766:g.156376G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14779G>A MANE Select	NP_000531.2:p.Val4927Ile
ENST00000359596.8:c.14779G>A MANE Select	ENSP00000352608.2:p.Val4927Ile
NM_000540.2:c.14779G>A , LRG_766t1:c.14779G>A	NP_000531.2:p.Val4927Ile
NM_001042723.1:c.14764G>A	NP_001036188.1:p.Val4922Ile
NM_001042723.2:c.14764G>A	NP_001036188.1:p.Val4922Ile
ENST00000355481.8:c.14764G>A	ENSP00000347667.3:p.Val4922Ile
ENST00000359596.7:c.14779G>A	ENSP00000352608.2:p.Val4927Ile
ENST00000360985.7:c.14761G>A	ENSP00000354254.4:p.Val4921Ile
ENST00000593677.2:c.1715G>A
ENST00000688602.1:c.3112G>A
ENST00000689936.1:c.3084G>A
ENST00000692547.1:n.172G>A
XM_006723317.1:c.14761G>A	XP_006723380.1:p.Val4921Ile
XM_006723317.2:c.14761G>A	XP_006723380.1:p.Val4921Ile
XM_006723319.1:c.14746G>A	XP_006723382.1:p.Val4916Ile
XM_006723319.2:c.14746G>A	XP_006723382.1:p.Val4916Ile
XM_011527204.1:c.14776G>A	XP_011525506.1:p.Val4926Ile
XM_011527205.1:c.14692G>A	XP_011525507.1:p.Val4898Ile
XM_011527205.2:c.14692G>A	XP_011525507.1:p.Val4898Ile