Canonical Allele Identifier: CA405673697

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565476-C-T
• MyVariant Identifiers: chr19:g.39056116C>T (hg19) ; chr19:g.38565476C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565476C>T , CM000681.2:g.38565476C>T	GRCh38
NC_000019.9:g.39056116C>T , CM000681.1:g.39056116C>T	GRCh37
NC_000019.8:g.43747956C>T	NCBI36
NG_008866.1:g.136777C>T , LRG_766:g.136777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.78C>T
ENST00000688602.1:c.1552C>T
ENST00000689936.1:c.1534C>T
ENST00000359596.8:c.13142C>T MANE Select	ENSP00000352608.2:p.Ala4381Val
ENST00000355481.8:c.13127C>T	ENSP00000347667.3:p.Ala4376Val
ENST00000359596.7:c.13142C>T	ENSP00000352608.2:p.Ala4381Val
ENST00000360985.7:c.13124C>T	ENSP00000354254.4:p.Ala4375Val
NM_000540.2:c.13142C>T , LRG_766t1:c.13142C>T	NP_000531.2:p.Ala4381Val
NM_001042723.1:c.13127C>T	NP_001036188.1:p.Ala4376Val
XM_006723317.1:c.13124C>T	XP_006723380.1:p.Ala4375Val
XM_006723319.1:c.13109C>T	XP_006723382.1:p.Ala4370Val
XM_011527204.1:c.13139C>T	XP_011525506.1:p.Ala4380Val
XM_011527205.1:c.13142C>T	XP_011525507.1:p.Ala4381Val
XM_006723317.2:c.13124C>T	XP_006723380.1:p.Ala4375Val
XM_006723319.2:c.13109C>T	XP_006723382.1:p.Ala4370Val
XM_011527205.2:c.13142C>T	XP_011525507.1:p.Ala4381Val
NM_000540.3:c.13142C>T MANE Select	NP_000531.2:p.Ala4381Val
NM_001042723.2:c.13127C>T	NP_001036188.1:p.Ala4376Val