Canonical Allele Identifier: CA405687729

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39071069C>A (hg19) ; chr19:g.38580429C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580429C>A , CM000681.2:g.38580429C>A	GRCh38
NC_000019.9:g.39071069C>A , CM000681.1:g.39071069C>A	GRCh37
NC_000019.8:g.43762909C>A	NCBI36
NG_008866.1:g.151730C>A , LRG_766:g.151730C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1507C>A
ENST00000688602.1:c.2904C>A
ENST00000689936.1:c.2876C>A
ENST00000359596.8:c.14571C>A MANE Select	ENSP00000352608.2:p.Phe4857Leu
ENST00000355481.8:c.14556C>A	ENSP00000347667.3:p.Phe4852Leu
ENST00000359596.7:c.14571C>A	ENSP00000352608.2:p.Phe4857Leu
ENST00000360985.7:c.14553C>A	ENSP00000354254.4:p.Phe4851Leu
NM_000540.2:c.14571C>A , LRG_766t1:c.14571C>A	NP_000531.2:p.Phe4857Leu
NM_001042723.1:c.14556C>A	NP_001036188.1:p.Phe4852Leu
XM_006723317.1:c.14553C>A	XP_006723380.1:p.Phe4851Leu
XM_006723319.1:c.14538C>A	XP_006723382.1:p.Phe4846Leu
XM_011527204.1:c.14568C>A	XP_011525506.1:p.Phe4856Leu
XM_011527205.1:c.14484C>A	XP_011525507.1:p.Phe4828Leu
XM_006723317.2:c.14553C>A	XP_006723380.1:p.Phe4851Leu
XM_006723319.2:c.14538C>A	XP_006723382.1:p.Phe4846Leu
XM_011527205.2:c.14484C>A	XP_011525507.1:p.Phe4828Leu
NM_000540.3:c.14571C>A MANE Select	NP_000531.2:p.Phe4857Leu
NM_001042723.2:c.14556C>A	NP_001036188.1:p.Phe4852Leu