Canonical Allele Identifier: CA6650440
Community Standard Title: NM_004990.4(MARS1):c.1201G>A (p.Val401Met)
Gene: MARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57500430G>A , CM000674.2:g.57500430G>A GRCh38
NC_000012.11:g.57894213G>A , CM000674.1:g.57894213G>A GRCh37
NC_000012.10:g.56180480G>A NCBI36
NG_034077.1:g.17478G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004990.4:c.1201G>A MANE Select NP_004981.2:p.Val401Met
ENST00000262027.10:c.1201G>A MANE Select ENSP00000262027.5:p.Val401Met
NM_004990.3:c.1201G>A NP_004981.2:p.Val401Met
ENST00000262027.9:c.1201G>A ENSP00000262027.5:p.Val401Met
ENST00000447721.6:n.843G>A
ENST00000537638.6:c.1201G>A ENSP00000446168.2:p.Val401Met
ENST00000545888.6:c.*702G>A ENSP00000439307.2:n.*702G>A
ENST00000548944.1:c.73G>A ENSP00000449071.1:p.Val25Met
ENST00000549827.1:n.317G>A
ENST00000552371.1:c.699G>A
ENST00000628866.2:c.*702G>A ENSP00000486738.1:n.*702G>A
XM_006719398.2:c.499G>A XP_006719461.1:p.Val167Met
XM_006719398.4:c.499G>A XP_006719461.1:p.Val167Met
XM_011538353.1:c.1201G>A XP_011536655.1:p.Val401Met
XR_001748704.2:n.1224G>A
XR_002957327.1:n.1148G>A