Canonical Allele Identifier: CA405687876

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39071094A>C (hg19) ; chr19:g.38580454A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580454A>C , CM000681.2:g.38580454A>C	GRCh38
NC_000019.9:g.39071094A>C , CM000681.1:g.39071094A>C	GRCh37
NC_000019.8:g.43762934A>C	NCBI36
NG_008866.1:g.151755A>C , LRG_766:g.151755A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1532A>C
ENST00000688602.1:c.2929A>C
ENST00000689936.1:c.2901A>C
ENST00000359596.8:c.14596A>C MANE Select	ENSP00000352608.2:p.Lys4866Gln
ENST00000355481.8:c.14581A>C	ENSP00000347667.3:p.Lys4861Gln
ENST00000359596.7:c.14596A>C	ENSP00000352608.2:p.Lys4866Gln
ENST00000360985.7:c.14578A>C	ENSP00000354254.4:p.Lys4860Gln
NM_000540.2:c.14596A>C , LRG_766t1:c.14596A>C	NP_000531.2:p.Lys4866Gln
NM_001042723.1:c.14581A>C	NP_001036188.1:p.Lys4861Gln
XM_006723317.1:c.14578A>C	XP_006723380.1:p.Lys4860Gln
XM_006723319.1:c.14563A>C	XP_006723382.1:p.Lys4855Gln
XM_011527204.1:c.14593A>C	XP_011525506.1:p.Lys4865Gln
XM_011527205.1:c.14509A>C	XP_011525507.1:p.Lys4837Gln
XM_006723317.2:c.14578A>C	XP_006723380.1:p.Lys4860Gln
XM_006723319.2:c.14563A>C	XP_006723382.1:p.Lys4855Gln
XM_011527205.2:c.14509A>C	XP_011525507.1:p.Lys4837Gln
NM_000540.3:c.14596A>C MANE Select	NP_000531.2:p.Lys4866Gln
NM_001042723.2:c.14581A>C	NP_001036188.1:p.Lys4861Gln