Canonical Allele Identifier: CA2580086528

Gene: MARS1

Linked Data

• ClinVar Variation Id: 1697222
• ClinVar RCV Id: RCV002267561
• dbSNP Id: rs2140033743

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511721dup , CM000674.2:g.57511721dup	GRCh38
NC_000012.11:g.57905504dup , CM000674.1:g.57905504dup	GRCh37
NC_000012.10:g.56191771dup	NCBI36
NG_034077.1:g.28769dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1392dup MANE Select	ENSP00000262027.5:p.Leu465ValfsTer9
ENST00000262027.9:c.1392dup	ENSP00000262027.5:p.Leu465ValfsTer9
ENST00000447721.6:n.1034dup
ENST00000537638.6:c.1392dup	ENSP00000446168.2:p.Leu465ValfsTer9
ENST00000545888.6:c.*893dup	ENSP00000439307.2:n.*893dup
ENST00000546971.5:n.136dup
ENST00000548944.1:c.134-4774dup	ENSP00000449071.1:n.134-4774dup
ENST00000549603.1:n.338dup
ENST00000628866.2:c.*893dup	ENSP00000486738.1:n.*893dup
NM_004990.3:c.1392dup	NP_004981.2:p.Leu465ValfsTer9
XM_006719398.2:c.690dup	XP_006719461.1:p.Leu231ValfsTer9
XM_011538353.1:c.1392dup	XP_011536655.1:p.Leu465ValfsTer9
XM_006719398.4:c.690dup	XP_006719461.1:p.Leu231ValfsTer9
XR_001748704.2:n.1415dup
XR_002957327.1:n.1339dup
NM_004990.4:c.1392dup MANE Select	NP_004981.2:p.Leu465ValfsTer9