Canonical Allele Identifier: CA128642

Gene: MAX

Linked Data

• ClinVar Variation Id: 29788
• ClinVar RCV Id: RCV000022655 ; RCV000550085 ; RCV000562852
• dbSNP Id: rs387906651
• COSMIC: COSM3738547
• MyVariant Identifiers: chr14:g.65560500G>A (hg19) ; chr14:g.65093782G>A (hg38)
• PubMed: PMID:21685915 ; PMID:22452945 ; PMID:25525159 ; PMID:27838885

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65093782G>A , CM000676.2:g.65093782G>A	GRCh38
NC_000014.8:g.65560500G>A , CM000676.1:g.65560500G>A	GRCh37
NC_000014.7:g.64630253G>A	NCBI36
NG_029830.1:g.13728C>T , LRG_530:g.13728C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.-123C>T	ENSP00000452206.2:n.-123C>T
ENST00000556979.6:c.97C>T	ENSP00000452378.1:p.Arg33Ter
ENST00000358664.9:c.97C>T MANE Select	ENSP00000351490.4:p.Arg33Ter
ENST00000651648.1:c.70C>T	ENSP00000498863.1:p.Arg24Ter
ENST00000246163.2:c.97C>T	ENSP00000246163.2:p.Arg33Ter
ENST00000284165.10:c.97C>T	ENSP00000284165.6:p.Arg33Ter
ENST00000341653.6:c.97C>T	ENSP00000342482.2:p.Arg33Ter
ENST00000358402.8:c.70C>T	ENSP00000351175.4:p.Arg24Ter
ENST00000358664.8:c.97C>T	ENSP00000351490.4:p.Arg33Ter
ENST00000394606.6:c.97C>T	ENSP00000378104.2:p.Arg33Ter
ENST00000553928.5:c.97C>T	ENSP00000451907.1:p.Arg33Ter
ENST00000553951.1:n.174C>T
ENST00000554709.1:n.248C>T
ENST00000555419.5:c.63+7764C>T	ENSP00000452405.1:n.63+7764C>T
ENST00000555667.5:c.70C>T	ENSP00000452286.1:p.Arg24Ter
ENST00000555932.5:c.36+8522C>T	ENSP00000450763.1:n.36+8522C>T
ENST00000556443.5:c.70C>T	ENSP00000450818.1:p.Arg24Ter
ENST00000556702.1:n.236C>T
ENST00000556892.5:c.-123C>T	ENSP00000452206.1:n.-123C>T
ENST00000556979.5:c.97C>T	ENSP00000452378.1:p.Arg33Ter
ENST00000557277.5:c.-178C>T	ENSP00000450955.1:n.-178C>T
ENST00000557746.5:c.70C>T	ENSP00000452197.1:p.Arg24Ter
ENST00000618858.4:c.97C>T	ENSP00000480127.1:p.Arg33Ter
NM_001271068.1:c.70C>T	NP_001257997.1:p.Arg24Ter
NM_001271069.1:c.70C>T	NP_001257998.1:p.Arg24Ter
NM_002382.4:c.97C>T	NP_002373.3:p.Arg33Ter
NM_145112.2:c.70C>T	NP_660087.1:p.Arg24Ter
NM_145113.2:c.97C>T	NP_660088.1:p.Arg33Ter
NM_145114.2:c.97C>T	NP_660089.1:p.Arg33Ter
NM_197957.3:c.97C>T	NP_932061.1:p.Arg33Ter
NR_045122.1:n.366G>A
NR_073137.1:n.221C>T
NR_073138.1:n.221C>T
XM_011536773.1:c.97C>T	XP_011535075.1:p.Arg33Ter
XR_429315.2:n.299C>T
XR_943450.1:n.299C>T
XR_943451.1:n.299C>T
XR_943452.1:n.261C>T
NM_001320415.1:c.-178C>T	NP_001307344.1:n.-178C>T
XM_011536773.3:c.97C>T	XP_011535075.1:p.Arg33Ter
XM_017021312.2:c.-178C>T	XP_016876801.1:n.-178C>T
XM_017021313.1:c.-178C>T	XP_016876802.1:n.-178C>T
XR_001750326.2:n.260C>T
XR_001750327.2:n.260C>T
XR_002957553.1:n.290C>T
XR_943450.3:n.299C>T
XR_943451.3:n.299C>T
XR_943452.3:n.260C>T
NM_001320415.2:c.-178C>T	NP_001307344.1:n.-178C>T
NM_002382.5:c.97C>T MANE Select	NP_002373.3:p.Arg33Ter
NM_145112.3:c.70C>T	NP_660087.1:p.Arg24Ter
NM_145113.3:c.97C>T	NP_660088.1:p.Arg33Ter
NM_001271068.2:c.70C>T	NP_001257997.1:p.Arg24Ter
NM_001271069.2:c.70C>T	NP_001257998.1:p.Arg24Ter
NM_145114.3:c.97C>T	NP_660089.1:p.Arg33Ter
NM_197957.4:c.97C>T	NP_932061.1:p.Arg33Ter