Canonical Allele Identifier: CA405681842

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39063829A>C (hg19) ; chr19:g.38573189A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573189A>C , CM000681.2:g.38573189A>C	GRCh38
NC_000019.9:g.39063829A>C , CM000681.1:g.39063829A>C	GRCh37
NC_000019.8:g.43755669A>C	NCBI36
NG_008866.1:g.144490A>C , LRG_766:g.144490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.947A>C
ENST00000688602.1:c.2344A>C
ENST00000689936.1:c.2316A>C
ENST00000359596.8:c.14011A>C MANE Select	ENSP00000352608.2:p.Ile4671Leu
ENST00000355481.8:c.13996A>C	ENSP00000347667.3:p.Ile4666Leu
ENST00000359596.7:c.14011A>C	ENSP00000352608.2:p.Ile4671Leu
ENST00000360985.7:c.13993A>C	ENSP00000354254.4:p.Ile4665Leu
NM_000540.2:c.14011A>C , LRG_766t1:c.14011A>C	NP_000531.2:p.Ile4671Leu
NM_001042723.1:c.13996A>C	NP_001036188.1:p.Ile4666Leu
XM_006723317.1:c.13993A>C	XP_006723380.1:p.Ile4665Leu
XM_006723319.1:c.13978A>C	XP_006723382.1:p.Ile4660Leu
XM_011527204.1:c.14008A>C	XP_011525506.1:p.Ile4670Leu
XM_011527205.1:c.13924A>C	XP_011525507.1:p.Ile4642Leu
XM_006723317.2:c.13993A>C	XP_006723380.1:p.Ile4665Leu
XM_006723319.2:c.13978A>C	XP_006723382.1:p.Ile4660Leu
XM_011527205.2:c.13924A>C	XP_011525507.1:p.Ile4642Leu
NM_000540.3:c.14011A>C MANE Select	NP_000531.2:p.Ile4671Leu
NM_001042723.2:c.13996A>C	NP_001036188.1:p.Ile4666Leu