Canonical Allele Identifier: CA024257

Gene: RYR1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14779G>T MANE Select	NP_000531.2:p.Val4927Phe
ENST00000359596.8:c.14779G>T MANE Select	ENSP00000352608.2:p.Val4927Phe
NM_000540.2:c.14779G>T , LRG_766t1:c.14779G>T	NP_000531.2:p.Val4927Phe
NM_001042723.1:c.14764G>T	NP_001036188.1:p.Val4922Phe
NM_001042723.2:c.14764G>T	NP_001036188.1:p.Val4922Phe
ENST00000355481.8:c.14764G>T	ENSP00000347667.3:p.Val4922Phe
ENST00000359596.7:c.14779G>T	ENSP00000352608.2:p.Val4927Phe
ENST00000360985.7:c.14761G>T	ENSP00000354254.4:p.Val4921Phe
ENST00000593677.2:c.1715G>T
ENST00000688602.1:c.3112G>T
ENST00000689936.1:c.3084G>T
ENST00000692547.1:n.172G>T
XM_006723317.1:c.14761G>T	XP_006723380.1:p.Val4921Phe
XM_006723317.2:c.14761G>T	XP_006723380.1:p.Val4921Phe
XM_006723319.1:c.14746G>T	XP_006723382.1:p.Val4916Phe
XM_006723319.2:c.14746G>T	XP_006723382.1:p.Val4916Phe
XM_011527204.1:c.14776G>T	XP_011525506.1:p.Val4926Phe
XM_011527205.1:c.14692G>T	XP_011525507.1:p.Val4898Phe
XM_011527205.2:c.14692G>T	XP_011525507.1:p.Val4898Phe