Canonical Allele Identifier: CA405681367

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062870T>A (hg19) ; chr19:g.38572230T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572230T>A , CM000681.2:g.38572230T>A	GRCh38
NC_000019.9:g.39062870T>A , CM000681.1:g.39062870T>A	GRCh37
NC_000019.8:g.43754710T>A	NCBI36
NG_008866.1:g.143531T>A , LRG_766:g.143531T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.894T>A
ENST00000688602.1:c.2291T>A
ENST00000689936.1:c.2263T>A
ENST00000359596.8:c.13958T>A MANE Select	ENSP00000352608.2:p.Leu4653Gln
ENST00000355481.8:c.13943T>A	ENSP00000347667.3:p.Leu4648Gln
ENST00000359596.7:c.13958T>A	ENSP00000352608.2:p.Leu4653Gln
ENST00000360985.7:c.13940T>A	ENSP00000354254.4:p.Leu4647Gln
ENST00000593677.1:c.418T>A
NM_000540.2:c.13958T>A , LRG_766t1:c.13958T>A	NP_000531.2:p.Leu4653Gln
NM_001042723.1:c.13943T>A	NP_001036188.1:p.Leu4648Gln
XM_006723317.1:c.13940T>A	XP_006723380.1:p.Leu4647Gln
XM_006723319.1:c.13925T>A	XP_006723382.1:p.Leu4642Gln
XM_011527204.1:c.13955T>A	XP_011525506.1:p.Leu4652Gln
XM_011527205.1:c.13871T>A	XP_011525507.1:p.Leu4624Gln
XM_006723317.2:c.13940T>A	XP_006723380.1:p.Leu4647Gln
XM_006723319.2:c.13925T>A	XP_006723382.1:p.Leu4642Gln
XM_011527205.2:c.13871T>A	XP_011525507.1:p.Leu4624Gln
NM_000540.3:c.13958T>A MANE Select	NP_000531.2:p.Leu4653Gln
NM_001042723.2:c.13943T>A	NP_001036188.1:p.Leu4648Gln