Canonical Allele Identifier: CA290776709

Gene: MLX

Linked Data

• dbSNP Id: rs140676383
• gnomAD v4: 17-42571551-T-C
• COSMIC: COSM4066593
• MyVariant Identifiers: chr17:g.40723569T>C (hg19) ; chr17:g.42571551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571551T>C , CM000679.2:g.42571551T>C	GRCh38
NC_000017.10:g.40723569T>C , CM000679.1:g.40723569T>C	GRCh37
NC_000017.9:g.37977095T>C	NCBI36
NG_029442.1:g.9492T>C
NG_031960.1:g.11281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.683T>C MANE Select	ENSP00000416627.1:p.Leu228Pro
ENST00000246912.8:c.845T>C	ENSP00000246912.3:p.Leu282Pro
ENST00000346833.8:c.593T>C	ENSP00000320913.3:p.Leu198Pro
ENST00000435881.6:c.683T>C	ENSP00000416627.1:p.Leu228Pro
ENST00000585403.5:n.890T>C
ENST00000588320.1:n.1159T>C
ENST00000590050.5:n.849T>C
NM_170607.2:c.845T>C	NP_733752.1:p.Leu282Pro
NM_198204.1:c.683T>C	NP_937847.1:p.Leu228Pro
NM_198205.1:c.593T>C	NP_937848.1:p.Leu198Pro
NM_198204.2:c.683T>C MANE Select	NP_937847.1:p.Leu228Pro
NM_170607.3:c.845T>C	NP_733752.1:p.Leu282Pro
NM_198205.2:c.593T>C	NP_937848.1:p.Leu198Pro