Canonical Allele Identifier: CA507356201

Gene: RYR1

Linked Data

• COSMIC: COSM996075
• MyVariant Identifiers: chr19:g.39062862G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572222G>T , CM000681.2:g.38572222G>T	GRCh38
NC_000019.9:g.39062862G>T , CM000681.1:g.39062862G>T	GRCh37
NC_000019.8:g.43754702G>T	NCBI36
NG_008866.1:g.143523G>T , LRG_766:g.143523G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.886G>T
ENST00000688602.1:c.2283G>T
ENST00000689936.1:c.2255G>T
ENST00000359596.8:c.13950G>T MANE Select	ENSP00000352608.2:p.Leu4650=
ENST00000355481.8:c.13935G>T	ENSP00000347667.3:p.Leu4645=
ENST00000359596.7:c.13950G>T	ENSP00000352608.2:p.Leu4650=
ENST00000360985.7:c.13932G>T	ENSP00000354254.4:p.Leu4644=
ENST00000593677.1:c.410G>T
NM_000540.2:c.13950G>T , LRG_766t1:c.13950G>T	NP_000531.2:p.Leu4650=
NM_001042723.1:c.13935G>T	NP_001036188.1:p.Leu4645=
XM_006723317.1:c.13932G>T	XP_006723380.1:p.Leu4644=
XM_006723319.1:c.13917G>T	XP_006723382.1:p.Leu4639=
XM_011527204.1:c.13947G>T	XP_011525506.1:p.Leu4649=
XM_011527205.1:c.13863G>T	XP_011525507.1:p.Leu4621=
XM_006723317.2:c.13932G>T	XP_006723380.1:p.Leu4644=
XM_006723319.2:c.13917G>T	XP_006723382.1:p.Leu4639=
XM_011527205.2:c.13863G>T	XP_011525507.1:p.Leu4621=
NM_000540.3:c.13950G>T MANE Select	NP_000531.2:p.Leu4650=
NM_001042723.2:c.13935G>T	NP_001036188.1:p.Leu4645=