Canonical Allele Identifier: CA390031866

Gene: MAX

Linked Data

• ClinVar Variation Id: 1106272
• ClinVar RCV Id: RCV001430963 ; RCV003365395 ; RCV002307745
• dbSNP Id: rs2139741549
• gnomAD v4: 14-65076626-C-T
• COSMIC: COSM433260
• MyVariant Identifiers: chr14:g.65543344C>T (hg19) ; chr14:g.65076626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076626C>T , CM000676.2:g.65076626C>T	GRCh38
NC_000014.8:g.65543344C>T , CM000676.1:g.65543344C>T	GRCh37
NC_000014.7:g.64613097C>T	NCBI36
NG_029830.1:g.30884G>A , LRG_530:g.30884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.114G>A	ENSP00000452206.2:p.Leu38=
ENST00000556979.6:c.*786G>A	ENSP00000452378.1:n.*786G>A
ENST00000358664.9:c.333G>A MANE Select	ENSP00000351490.4:p.Leu111=
ENST00000651648.1:c.145-6257G>A	ENSP00000498863.1:n.145-6257G>A
ENST00000284165.10:c.*1177G>A	ENSP00000284165.6:n.*1177G>A
ENST00000341653.6:c.171+17082G>A	ENSP00000342482.2:n.171+17082G>A
ENST00000358402.8:c.306G>A	ENSP00000351175.4:p.Leu102=
ENST00000358664.8:c.333G>A	ENSP00000351490.4:p.Leu111=
ENST00000394606.6:c.*106G>A	ENSP00000378104.2:n.*106G>A
ENST00000553928.5:c.*122G>A	ENSP00000451907.1:n.*122G>A
ENST00000555419.5:c.225G>A	ENSP00000452405.1:p.Leu75=
ENST00000555932.5:c.74G>A	ENSP00000450763.1:p.Cys25Tyr
ENST00000556892.5:c.114G>A	ENSP00000452206.1:p.Leu38=
ENST00000557277.5:c.144G>A	ENSP00000450955.1:p.Leu48=
ENST00000618858.4:c.*122G>A	ENSP00000480127.1:n.*122G>A
NM_001271069.1:c.144+17082G>A	NP_001257998.1:n.144+17082G>A
NM_002382.4:c.333G>A	NP_002373.3:p.Leu111=
NM_145112.2:c.306G>A	NP_660087.1:p.Leu102=
NM_145113.2:c.*122G>A	NP_660088.1:n.*122G>A
NM_197957.3:c.171+17082G>A	NP_932061.1:n.171+17082G>A
NR_073137.1:n.457G>A
XR_429315.2:n.620G>A
XR_943450.1:n.701G>A
XR_943451.1:n.717G>A
XR_943452.1:n.663G>A
NM_001320415.1:c.144G>A	NP_001307344.1:p.Leu48=
XM_017021312.2:c.144G>A	XP_016876801.1:p.Leu48=
XM_017021313.1:c.144G>A	XP_016876802.1:p.Leu48=
XR_001750326.2:n.678G>A
XR_001750327.2:n.597G>A
XR_002957553.1:n.1111G>A
XR_943450.3:n.701G>A
XR_943451.3:n.717G>A
XR_943452.3:n.662G>A
NM_001320415.2:c.144G>A	NP_001307344.1:p.Leu48=
NM_002382.5:c.333G>A MANE Select	NP_002373.3:p.Leu111=
NM_145112.3:c.306G>A	NP_660087.1:p.Leu102=
NM_145113.3:c.*122G>A	NP_660088.1:n.*122G>A
NM_001271069.2:c.144+17082G>A	NP_001257998.1:n.144+17082G>A
NM_197957.4:c.171+17082G>A	NP_932061.1:n.171+17082G>A