Canonical Allele Identifier: CA405688121

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39071136A>T (hg19) ; chr19:g.38580496A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580496A>T , CM000681.2:g.38580496A>T	GRCh38
NC_000019.9:g.39071136A>T , CM000681.1:g.39071136A>T	GRCh37
NC_000019.8:g.43762976A>T	NCBI36
NG_008866.1:g.151797A>T , LRG_766:g.151797A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1574A>T
ENST00000688602.1:c.2971A>T
ENST00000689936.1:c.2943A>T
ENST00000359596.8:c.14638A>T MANE Select	ENSP00000352608.2:p.Met4880Leu
ENST00000355481.8:c.14623A>T	ENSP00000347667.3:p.Met4875Leu
ENST00000359596.7:c.14638A>T	ENSP00000352608.2:p.Met4880Leu
ENST00000360985.7:c.14620A>T	ENSP00000354254.4:p.Met4874Leu
NM_000540.2:c.14638A>T , LRG_766t1:c.14638A>T	NP_000531.2:p.Met4880Leu
NM_001042723.1:c.14623A>T	NP_001036188.1:p.Met4875Leu
XM_006723317.1:c.14620A>T	XP_006723380.1:p.Met4874Leu
XM_006723319.1:c.14605A>T	XP_006723382.1:p.Met4869Leu
XM_011527204.1:c.14635A>T	XP_011525506.1:p.Met4879Leu
XM_011527205.1:c.14551A>T	XP_011525507.1:p.Met4851Leu
XM_006723317.2:c.14620A>T	XP_006723380.1:p.Met4874Leu
XM_006723319.2:c.14605A>T	XP_006723382.1:p.Met4869Leu
XM_011527205.2:c.14551A>T	XP_011525507.1:p.Met4851Leu
NM_000540.3:c.14638A>T MANE Select	NP_000531.2:p.Met4880Leu
NM_001042723.2:c.14623A>T	NP_001036188.1:p.Met4875Leu