Canonical Allele Identifier: CA507356021

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070702G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580062G>T , CM000681.2:g.38580062G>T	GRCh38
NC_000019.9:g.39070702G>T , CM000681.1:g.39070702G>T	GRCh37
NC_000019.8:g.43762542G>T	NCBI36
NG_008866.1:g.151363G>T , LRG_766:g.151363G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1381G>T
ENST00000688602.1:c.2778G>T
ENST00000689936.1:c.2750G>T
ENST00000359596.8:c.14445G>T MANE Select	ENSP00000352608.2:p.Leu4815=
ENST00000355481.8:c.14430G>T	ENSP00000347667.3:p.Leu4810=
ENST00000359596.7:c.14445G>T	ENSP00000352608.2:p.Leu4815=
ENST00000360985.7:c.14427G>T	ENSP00000354254.4:p.Leu4809=
NM_000540.2:c.14445G>T , LRG_766t1:c.14445G>T	NP_000531.2:p.Leu4815=
NM_001042723.1:c.14430G>T	NP_001036188.1:p.Leu4810=
XM_006723317.1:c.14427G>T	XP_006723380.1:p.Leu4809=
XM_006723319.1:c.14412G>T	XP_006723382.1:p.Leu4804=
XM_011527204.1:c.14442G>T	XP_011525506.1:p.Leu4814=
XM_011527205.1:c.14358G>T	XP_011525507.1:p.Leu4786=
XM_006723317.2:c.14427G>T	XP_006723380.1:p.Leu4809=
XM_006723319.2:c.14412G>T	XP_006723382.1:p.Leu4804=
XM_011527205.2:c.14358G>T	XP_011525507.1:p.Leu4786=
NM_000540.3:c.14445G>T MANE Select	NP_000531.2:p.Leu4815=
NM_001042723.2:c.14430G>T	NP_001036188.1:p.Leu4810=