Canonical Allele Identifier: CA507356186

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062853G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572213G>C , CM000681.2:g.38572213G>C	GRCh38
NC_000019.9:g.39062853G>C , CM000681.1:g.39062853G>C	GRCh37
NC_000019.8:g.43754693G>C	NCBI36
NG_008866.1:g.143514G>C , LRG_766:g.143514G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.877G>C
ENST00000688602.1:c.2274G>C
ENST00000689936.1:c.2246G>C
ENST00000359596.8:c.13941G>C MANE Select	ENSP00000352608.2:p.Leu4647=
ENST00000355481.8:c.13926G>C	ENSP00000347667.3:p.Leu4642=
ENST00000359596.7:c.13941G>C	ENSP00000352608.2:p.Leu4647=
ENST00000360985.7:c.13923G>C	ENSP00000354254.4:p.Leu4641=
ENST00000593677.1:c.401G>C
NM_000540.2:c.13941G>C , LRG_766t1:c.13941G>C	NP_000531.2:p.Leu4647=
NM_001042723.1:c.13926G>C	NP_001036188.1:p.Leu4642=
XM_006723317.1:c.13923G>C	XP_006723380.1:p.Leu4641=
XM_006723319.1:c.13908G>C	XP_006723382.1:p.Leu4636=
XM_011527204.1:c.13938G>C	XP_011525506.1:p.Leu4646=
XM_011527205.1:c.13854G>C	XP_011525507.1:p.Leu4618=
XM_006723317.2:c.13923G>C	XP_006723380.1:p.Leu4641=
XM_006723319.2:c.13908G>C	XP_006723382.1:p.Leu4636=
XM_011527205.2:c.13854G>C	XP_011525507.1:p.Leu4618=
NM_000540.3:c.13941G>C MANE Select	NP_000531.2:p.Leu4647=
NM_001042723.2:c.13926G>C	NP_001036188.1:p.Leu4642=