Canonical Allele Identifier: CA405687819

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39071083A>T (hg19) ; chr19:g.38580443A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580443A>T , CM000681.2:g.38580443A>T	GRCh38
NC_000019.9:g.39071083A>T , CM000681.1:g.39071083A>T	GRCh37
NC_000019.8:g.43762923A>T	NCBI36
NG_008866.1:g.151744A>T , LRG_766:g.151744A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1521A>T
ENST00000688602.1:c.2918A>T
ENST00000689936.1:c.2890A>T
ENST00000359596.8:c.14585A>T MANE Select	ENSP00000352608.2:p.Lys4862Met
ENST00000355481.8:c.14570A>T	ENSP00000347667.3:p.Lys4857Met
ENST00000359596.7:c.14585A>T	ENSP00000352608.2:p.Lys4862Met
ENST00000360985.7:c.14567A>T	ENSP00000354254.4:p.Lys4856Met
NM_000540.2:c.14585A>T , LRG_766t1:c.14585A>T	NP_000531.2:p.Lys4862Met
NM_001042723.1:c.14570A>T	NP_001036188.1:p.Lys4857Met
XM_006723317.1:c.14567A>T	XP_006723380.1:p.Lys4856Met
XM_006723319.1:c.14552A>T	XP_006723382.1:p.Lys4851Met
XM_011527204.1:c.14582A>T	XP_011525506.1:p.Lys4861Met
XM_011527205.1:c.14498A>T	XP_011525507.1:p.Lys4833Met
XM_006723317.2:c.14567A>T	XP_006723380.1:p.Lys4856Met
XM_006723319.2:c.14552A>T	XP_006723382.1:p.Lys4851Met
XM_011527205.2:c.14498A>T	XP_011525507.1:p.Lys4833Met
NM_000540.3:c.14585A>T MANE Select	NP_000531.2:p.Lys4862Met
NM_001042723.2:c.14570A>T	NP_001036188.1:p.Lys4857Met