Canonical Allele Identifier: CA385461474

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57905569T>C (hg19) ; chr12:g.57511786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511786T>C , CM000674.2:g.57511786T>C	GRCh38
NC_000012.11:g.57905569T>C , CM000674.1:g.57905569T>C	GRCh37
NC_000012.10:g.56191836T>C	NCBI36
NG_034077.1:g.28834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1457T>C MANE Select	ENSP00000262027.5:p.Leu486Pro
ENST00000262027.9:c.1457T>C	ENSP00000262027.5:p.Leu486Pro
ENST00000447721.6:n.1099T>C
ENST00000537638.6:c.1457T>C	ENSP00000446168.2:p.Leu486Pro
ENST00000545888.6:c.*958T>C	ENSP00000439307.2:n.*958T>C
ENST00000546971.5:n.201T>C
ENST00000548630.1:n.18T>C
ENST00000548944.1:c.134-4709T>C	ENSP00000449071.1:n.134-4709T>C
ENST00000628866.2:c.*958T>C	ENSP00000486738.1:n.*958T>C
NM_004990.3:c.1457T>C	NP_004981.2:p.Leu486Pro
XM_006719398.2:c.755T>C	XP_006719461.1:p.Leu252Pro
XM_011538353.1:c.1457T>C	XP_011536655.1:p.Leu486Pro
XM_006719398.4:c.755T>C	XP_006719461.1:p.Leu252Pro
XR_001748704.2:n.1480T>C
XR_002957327.1:n.1404T>C
NM_004990.4:c.1457T>C MANE Select	NP_004981.2:p.Leu486Pro