Canonical Allele Identifier: CA507245144

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063855C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573215C>G , CM000681.2:g.38573215C>G	GRCh38
NC_000019.9:g.39063855C>G , CM000681.1:g.39063855C>G	GRCh37
NC_000019.8:g.43755695C>G	NCBI36
NG_008866.1:g.144516C>G , LRG_766:g.144516C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.973C>G
ENST00000688602.1:c.2370C>G
ENST00000689936.1:c.2342C>G
ENST00000359596.8:c.14037C>G MANE Select	ENSP00000352608.2:p.Ala4679=
ENST00000355481.8:c.14022C>G	ENSP00000347667.3:p.Ala4674=
ENST00000359596.7:c.14037C>G	ENSP00000352608.2:p.Ala4679=
ENST00000360985.7:c.14019C>G	ENSP00000354254.4:p.Ala4673=
NM_000540.2:c.14037C>G , LRG_766t1:c.14037C>G	NP_000531.2:p.Ala4679=
NM_001042723.1:c.14022C>G	NP_001036188.1:p.Ala4674=
XM_006723317.1:c.14019C>G	XP_006723380.1:p.Ala4673=
XM_006723319.1:c.14004C>G	XP_006723382.1:p.Ala4668=
XM_011527204.1:c.14034C>G	XP_011525506.1:p.Ala4678=
XM_011527205.1:c.13950C>G	XP_011525507.1:p.Ala4650=
XM_006723317.2:c.14019C>G	XP_006723380.1:p.Ala4673=
XM_006723319.2:c.14004C>G	XP_006723382.1:p.Ala4668=
XM_011527205.2:c.13950C>G	XP_011525507.1:p.Ala4650=
NM_000540.3:c.14037C>G MANE Select	NP_000531.2:p.Ala4679=
NM_001042723.2:c.14022C>G	NP_001036188.1:p.Ala4674=