Canonical Allele Identifier: CA507246452

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39075735C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585095C>T , CM000681.2:g.38585095C>T	GRCh38
NC_000019.9:g.39075735C>T , CM000681.1:g.39075735C>T	GRCh37
NC_000019.8:g.43767575C>T	NCBI36
NG_008866.1:g.156396C>T , LRG_766:g.156396C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1735C>T
ENST00000688602.1:c.3132C>T
ENST00000689936.1:c.3104C>T
ENST00000692547.1:n.192C>T
ENST00000359596.8:c.14799C>T MANE Select	ENSP00000352608.2:p.Ile4933=
ENST00000355481.8:c.14784C>T	ENSP00000347667.3:p.Ile4928=
ENST00000359596.7:c.14799C>T	ENSP00000352608.2:p.Ile4933=
ENST00000360985.7:c.14781C>T	ENSP00000354254.4:p.Ile4927=
NM_000540.2:c.14799C>T , LRG_766t1:c.14799C>T	NP_000531.2:p.Ile4933=
NM_001042723.1:c.14784C>T	NP_001036188.1:p.Ile4928=
XM_006723317.1:c.14781C>T	XP_006723380.1:p.Ile4927=
XM_006723319.1:c.14766C>T	XP_006723382.1:p.Ile4922=
XM_011527204.1:c.14796C>T	XP_011525506.1:p.Ile4932=
XM_011527205.1:c.14712C>T	XP_011525507.1:p.Ile4904=
XM_006723317.2:c.14781C>T	XP_006723380.1:p.Ile4927=
XM_006723319.2:c.14766C>T	XP_006723382.1:p.Ile4922=
XM_011527205.2:c.14712C>T	XP_011525507.1:p.Ile4904=
NM_000540.3:c.14799C>T MANE Select	NP_000531.2:p.Ile4933=
NM_001042723.2:c.14784C>T	NP_001036188.1:p.Ile4928=