Canonical Allele Identifier: CA405662871

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39034465G>C (hg19) ; chr19:g.38543825G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543825G>C , CM000681.2:g.38543825G>C	GRCh38
NC_000019.9:g.39034465G>C , CM000681.1:g.39034465G>C	GRCh37
NC_000019.8:g.43726305G>C	NCBI36
NG_008866.1:g.115126G>C , LRG_766:g.115126G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.372G>C
ENST00000689936.1:c.354G>C
ENST00000359596.8:c.11962G>C MANE Select	ENSP00000352608.2:p.Val3988Leu
ENST00000355481.8:c.11947G>C	ENSP00000347667.3:p.Val3983Leu
ENST00000359596.7:c.11962G>C	ENSP00000352608.2:p.Val3988Leu
ENST00000360985.7:c.11944G>C	ENSP00000354254.4:p.Val3982Leu
ENST00000593322.1:c.571G>C
ENST00000594335.5:c.5331G>C
NM_000540.2:c.11962G>C , LRG_766t1:c.11962G>C	NP_000531.2:p.Val3988Leu
NM_001042723.1:c.11947G>C	NP_001036188.1:p.Val3983Leu
XM_006723317.1:c.11944G>C	XP_006723380.1:p.Val3982Leu
XM_006723319.1:c.11929G>C	XP_006723382.1:p.Val3977Leu
XM_011527204.1:c.11959G>C	XP_011525506.1:p.Val3987Leu
XM_011527205.1:c.11962G>C	XP_011525507.1:p.Val3988Leu
XM_006723317.2:c.11944G>C	XP_006723380.1:p.Val3982Leu
XM_006723319.2:c.11929G>C	XP_006723382.1:p.Val3977Leu
XM_011527205.2:c.11962G>C	XP_011525507.1:p.Val3988Leu
NM_000540.3:c.11962G>C MANE Select	NP_000531.2:p.Val3988Leu
NM_001042723.2:c.11947G>C	NP_001036188.1:p.Val3983Leu