Canonical Allele Identifier: CA507355585

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565249-G-A
• MyVariant Identifiers: chr19:g.39055889G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565249G>A , CM000681.2:g.38565249G>A	GRCh38
NC_000019.9:g.39055889G>A , CM000681.1:g.39055889G>A	GRCh37
NC_000019.8:g.43747729G>A	NCBI36
NG_008866.1:g.136550G>A , LRG_766:g.136550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1325G>A
ENST00000689936.1:c.1307G>A
ENST00000359596.8:c.12915G>A MANE Select	ENSP00000352608.2:p.Leu4305=
ENST00000355481.8:c.12900G>A	ENSP00000347667.3:p.Leu4300=
ENST00000359596.7:c.12915G>A	ENSP00000352608.2:p.Leu4305=
ENST00000360985.7:c.12897G>A	ENSP00000354254.4:p.Leu4299=
NM_000540.2:c.12915G>A , LRG_766t1:c.12915G>A	NP_000531.2:p.Leu4305=
NM_001042723.1:c.12900G>A	NP_001036188.1:p.Leu4300=
XM_006723317.1:c.12897G>A	XP_006723380.1:p.Leu4299=
XM_006723319.1:c.12882G>A	XP_006723382.1:p.Leu4294=
XM_011527204.1:c.12912G>A	XP_011525506.1:p.Leu4304=
XM_011527205.1:c.12915G>A	XP_011525507.1:p.Leu4305=
XM_006723317.2:c.12897G>A	XP_006723380.1:p.Leu4299=
XM_006723319.2:c.12882G>A	XP_006723382.1:p.Leu4294=
XM_011527205.2:c.12915G>A	XP_011525507.1:p.Leu4305=
NM_000540.3:c.12915G>A MANE Select	NP_000531.2:p.Leu4305=
NM_001042723.2:c.12900G>A	NP_001036188.1:p.Leu4300=