Canonical Allele Identifier: CA405687417

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070755A>T (hg19) ; chr19:g.38580115A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580115A>T , CM000681.2:g.38580115A>T	GRCh38
NC_000019.9:g.39070755A>T , CM000681.1:g.39070755A>T	GRCh37
NC_000019.8:g.43762595A>T	NCBI36
NG_008866.1:g.151416A>T , LRG_766:g.151416A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1434A>T
ENST00000688602.1:c.2831A>T
ENST00000689936.1:c.2803A>T
ENST00000359596.8:c.14498A>T MANE Select	ENSP00000352608.2:p.His4833Leu
ENST00000355481.8:c.14483A>T	ENSP00000347667.3:p.His4828Leu
ENST00000359596.7:c.14498A>T	ENSP00000352608.2:p.His4833Leu
ENST00000360985.7:c.14480A>T	ENSP00000354254.4:p.His4827Leu
NM_000540.2:c.14498A>T , LRG_766t1:c.14498A>T	NP_000531.2:p.His4833Leu
NM_001042723.1:c.14483A>T	NP_001036188.1:p.His4828Leu
XM_006723317.1:c.14480A>T	XP_006723380.1:p.His4827Leu
XM_006723319.1:c.14465A>T	XP_006723382.1:p.His4822Leu
XM_011527204.1:c.14495A>T	XP_011525506.1:p.His4832Leu
XM_011527205.1:c.14411A>T	XP_011525507.1:p.His4804Leu
XM_006723317.2:c.14480A>T	XP_006723380.1:p.His4827Leu
XM_006723319.2:c.14465A>T	XP_006723382.1:p.His4822Leu
XM_011527205.2:c.14411A>T	XP_011525507.1:p.His4804Leu
NM_000540.3:c.14498A>T MANE Select	NP_000531.2:p.His4833Leu
NM_001042723.2:c.14483A>T	NP_001036188.1:p.His4828Leu