Canonical Allele Identifier: CA053859

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38525365A>C , CM000681.2:g.38525365A>C	GRCh38
NC_000019.9:g.39016005A>C , CM000681.1:g.39016005A>C	GRCh37
NC_000019.8:g.43707845A>C	NCBI36
NG_008866.1:g.96666A>C , LRG_766:g.96666A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.10489A>C MANE Select	NP_000531.2:p.Lys3497Gln
ENST00000359596.8:c.10489A>C MANE Select	ENSP00000352608.2:p.Lys3497Gln
NM_000540.2:c.10489A>C , LRG_766t1:c.10489A>C	NP_000531.2:p.Lys3497Gln
NM_001042723.1:c.10474A>C	NP_001036188.1:p.Lys3492Gln
NM_001042723.2:c.10474A>C	NP_001036188.1:p.Lys3492Gln
ENST00000355481.8:c.10474A>C	ENSP00000347667.3:p.Lys3492Gln
ENST00000359596.7:c.10489A>C	ENSP00000352608.2:p.Lys3497Gln
ENST00000360985.7:c.10471A>C	ENSP00000354254.4:p.Lys3491Gln
ENST00000594335.5:c.3876A>C
ENST00000599547.5:c.1296A>C
ENST00000599547.6:c.10428A>C	ENSP00000471601.2:n.10428A>C
XM_006723317.1:c.10489A>C	XP_006723380.1:p.Lys3497Gln
XM_006723317.2:c.10489A>C	XP_006723380.1:p.Lys3497Gln
XM_006723319.1:c.10474A>C	XP_006723382.1:p.Lys3492Gln
XM_006723319.2:c.10474A>C	XP_006723382.1:p.Lys3492Gln
XM_011527204.1:c.10486A>C	XP_011525506.1:p.Lys3496Gln
XM_011527205.1:c.10489A>C	XP_011525507.1:p.Lys3497Gln
XM_011527205.2:c.10489A>C	XP_011525507.1:p.Lys3497Gln