Canonical Allele Identifier: CA2573148843

Gene: MARS1

Linked Data

• ClinVar Variation Id: 1681742
• ClinVar RCV Id: RCV002239244
• dbSNP Id: rs2140033925

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511847del , CM000674.2:g.57511847del	GRCh38
NC_000012.11:g.57905630del , CM000674.1:g.57905630del	GRCh37
NC_000012.10:g.56191897del	NCBI36
NG_034077.1:g.28895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1518del MANE Select	ENSP00000262027.5:p.Leu507Ter
ENST00000262027.9:c.1518del	ENSP00000262027.5:p.Leu507Ter
ENST00000447721.6:n.1160del
ENST00000537638.6:c.1518del	ENSP00000446168.2:p.Leu507Ter
ENST00000545888.6:c.*1019del	ENSP00000439307.2:n.*1019del
ENST00000546971.5:n.262del
ENST00000548630.1:n.79del
ENST00000548944.1:c.134-4648del	ENSP00000449071.1:n.134-4648del
ENST00000549048.1:n.51del
ENST00000628866.2:c.*1019del	ENSP00000486738.1:n.*1019del
NM_004990.3:c.1518del	NP_004981.2:p.Leu507Ter
XM_006719398.2:c.816del	XP_006719461.1:p.Leu273Ter
XM_011538353.1:c.1518del	XP_011536655.1:p.Leu507Ter
XM_006719398.4:c.816del	XP_006719461.1:p.Leu273Ter
XR_001748704.2:n.1541del
XR_002957327.1:n.1465del
NM_004990.4:c.1518del MANE Select	NP_004981.2:p.Leu507Ter