Canonical Allele Identifier: CA405690151

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39075600G>C (hg19) ; chr19:g.38584960G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584960G>C , CM000681.2:g.38584960G>C	GRCh38
NC_000019.9:g.39075600G>C , CM000681.1:g.39075600G>C	GRCh37
NC_000019.8:g.43767440G>C	NCBI36
NG_008866.1:g.156261G>C , LRG_766:g.156261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1600G>C
ENST00000688602.1:c.2997G>C
ENST00000689936.1:c.2969G>C
ENST00000692547.1:n.57G>C
ENST00000359596.8:c.14664G>C MANE Select	ENSP00000352608.2:p.Met4888Ile
ENST00000355481.8:c.14649G>C	ENSP00000347667.3:p.Met4883Ile
ENST00000359596.7:c.14664G>C	ENSP00000352608.2:p.Met4888Ile
ENST00000360985.7:c.14646G>C	ENSP00000354254.4:p.Met4882Ile
NM_000540.2:c.14664G>C , LRG_766t1:c.14664G>C	NP_000531.2:p.Met4888Ile
NM_001042723.1:c.14649G>C	NP_001036188.1:p.Met4883Ile
XM_006723317.1:c.14646G>C	XP_006723380.1:p.Met4882Ile
XM_006723319.1:c.14631G>C	XP_006723382.1:p.Met4877Ile
XM_011527204.1:c.14661G>C	XP_011525506.1:p.Met4887Ile
XM_011527205.1:c.14577G>C	XP_011525507.1:p.Met4859Ile
XM_006723317.2:c.14646G>C	XP_006723380.1:p.Met4882Ile
XM_006723319.2:c.14631G>C	XP_006723382.1:p.Met4877Ile
XM_011527205.2:c.14577G>C	XP_011525507.1:p.Met4859Ile
NM_000540.3:c.14664G>C MANE Select	NP_000531.2:p.Met4888Ile
NM_001042723.2:c.14649G>C	NP_001036188.1:p.Met4883Ile