Canonical Allele Identifier: CA405687434

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070758A>T (hg19) ; chr19:g.38580118A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580118A>T , CM000681.2:g.38580118A>T	GRCh38
NC_000019.9:g.39070758A>T , CM000681.1:g.39070758A>T	GRCh37
NC_000019.8:g.43762598A>T	NCBI36
NG_008866.1:g.151419A>T , LRG_766:g.151419A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1437A>T
ENST00000688602.1:c.2834A>T
ENST00000689936.1:c.2806A>T
ENST00000359596.8:c.14501A>T MANE Select	ENSP00000352608.2:p.Asn4834Ile
ENST00000355481.8:c.14486A>T	ENSP00000347667.3:p.Asn4829Ile
ENST00000359596.7:c.14501A>T	ENSP00000352608.2:p.Asn4834Ile
ENST00000360985.7:c.14483A>T	ENSP00000354254.4:p.Asn4828Ile
NM_000540.2:c.14501A>T , LRG_766t1:c.14501A>T	NP_000531.2:p.Asn4834Ile
NM_001042723.1:c.14486A>T	NP_001036188.1:p.Asn4829Ile
XM_006723317.1:c.14483A>T	XP_006723380.1:p.Asn4828Ile
XM_006723319.1:c.14468A>T	XP_006723382.1:p.Asn4823Ile
XM_011527204.1:c.14498A>T	XP_011525506.1:p.Asn4833Ile
XM_011527205.1:c.14414A>T	XP_011525507.1:p.Asn4805Ile
XM_006723317.2:c.14483A>T	XP_006723380.1:p.Asn4828Ile
XM_006723319.2:c.14468A>T	XP_006723382.1:p.Asn4823Ile
XM_011527205.2:c.14414A>T	XP_011525507.1:p.Asn4805Ile
NM_000540.3:c.14501A>T MANE Select	NP_000531.2:p.Asn4834Ile
NM_001042723.2:c.14486A>T	NP_001036188.1:p.Asn4829Ile