Canonical Allele Identifier: CA024108

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38575959A>C , CM000681.2:g.38575959A>C	GRCh38
NC_000019.9:g.39066599A>C , CM000681.1:g.39066599A>C	GRCh37
NC_000019.8:g.43758439A>C	NCBI36
NG_008866.1:g.147260A>C , LRG_766:g.147260A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14170A>C MANE Select	NP_000531.2:p.Lys4724Gln
ENST00000359596.8:c.14170A>C MANE Select	ENSP00000352608.2:p.Lys4724Gln
NM_000540.2:c.14170A>C , LRG_766t1:c.14170A>C	NP_000531.2:p.Lys4724Gln
NM_001042723.1:c.14155A>C	NP_001036188.1:p.Lys4719Gln
NM_001042723.2:c.14155A>C	NP_001036188.1:p.Lys4719Gln
ENST00000355481.8:c.14155A>C	ENSP00000347667.3:p.Lys4719Gln
ENST00000359596.7:c.14170A>C	ENSP00000352608.2:p.Lys4724Gln
ENST00000360985.7:c.14152A>C	ENSP00000354254.4:p.Lys4718Gln
ENST00000593677.2:c.1106A>C
ENST00000688602.1:c.2503A>C
ENST00000689936.1:c.2475A>C
XM_006723317.1:c.14152A>C	XP_006723380.1:p.Lys4718Gln
XM_006723317.2:c.14152A>C	XP_006723380.1:p.Lys4718Gln
XM_006723319.1:c.14137A>C	XP_006723382.1:p.Lys4713Gln
XM_006723319.2:c.14137A>C	XP_006723382.1:p.Lys4713Gln
XM_011527204.1:c.14167A>C	XP_011525506.1:p.Lys4723Gln
XM_011527205.1:c.14083A>C	XP_011525507.1:p.Lys4695Gln
XM_011527205.2:c.14083A>C	XP_011525507.1:p.Lys4695Gln