Canonical Allele Identifier: CA390035749

Gene: MAX

Linked Data

• ClinVar Variation Id: 1788086
• ClinVar RCV Id: RCV002420128 ; RCV003101148
• COSMIC: COSM240610
• MyVariant Identifiers: chr14:g.65544704C>T (hg19) ; chr14:g.65077986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65077986C>T , CM000676.2:g.65077986C>T	GRCh38
NC_000014.8:g.65544704C>T , CM000676.1:g.65544704C>T	GRCh37
NC_000014.7:g.64614457C>T	NCBI36
NG_029830.1:g.29524G>A , LRG_530:g.29524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.3G>A	ENSP00000452206.2:p.Met1Ile
ENST00000556979.6:c.222G>A	ENSP00000452378.1:p.Met74Ile
ENST00000358664.9:c.222G>A MANE Select	ENSP00000351490.4:p.Met74Ile
ENST00000651648.1:c.145-7617G>A	ENSP00000498863.1:n.145-7617G>A
ENST00000284165.10:c.222G>A	ENSP00000284165.6:p.Met74Ile
ENST00000341653.6:c.171+15722G>A	ENSP00000342482.2:n.171+15722G>A
ENST00000358402.8:c.195G>A	ENSP00000351175.4:p.Met65Ile
ENST00000358664.8:c.222G>A	ENSP00000351490.4:p.Met74Ile
ENST00000394606.6:c.222G>A	ENSP00000378104.2:p.Met74Ile
ENST00000553928.5:c.222G>A	ENSP00000451907.1:p.Met74Ile
ENST00000553951.1:n.299G>A
ENST00000555419.5:c.114G>A	ENSP00000452405.1:p.Met38Ile
ENST00000555667.5:c.195G>A	ENSP00000452286.1:p.Met65Ile
ENST00000555932.5:c.37-1323G>A	ENSP00000450763.1:n.37-1323G>A
ENST00000556443.5:c.195G>A	ENSP00000450818.1:p.Met65Ile
ENST00000556892.5:c.3G>A	ENSP00000452206.1:p.Met1Ile
ENST00000556979.5:c.222G>A	ENSP00000452378.1:p.Met74Ile
ENST00000557277.5:c.-53G>A	ENSP00000450955.1:n.-53G>A
ENST00000557746.5:c.195G>A	ENSP00000452197.1:p.Met65Ile
ENST00000618858.4:c.222G>A	ENSP00000480127.1:p.Met74Ile
NM_001271069.1:c.144+15722G>A	NP_001257998.1:n.144+15722G>A
NM_002382.4:c.222G>A	NP_002373.3:p.Met74Ile
NM_145112.2:c.195G>A	NP_660087.1:p.Met65Ile
NM_145113.2:c.222G>A	NP_660088.1:p.Met74Ile
NM_197957.3:c.171+15722G>A	NP_932061.1:n.171+15722G>A
NR_073137.1:n.346G>A
XM_011536773.1:c.222G>A	XP_011535075.1:p.Met74Ile
XR_429315.2:n.424G>A
XR_943450.1:n.424G>A
XR_943451.1:n.424G>A
XR_943452.1:n.386G>A
NM_001320415.1:c.-53G>A	NP_001307344.1:n.-53G>A
XM_011536773.3:c.222G>A	XP_011535075.1:p.Met74Ile
XM_017021312.2:c.-53G>A	XP_016876801.1:n.-53G>A
XM_017021313.1:c.-53G>A	XP_016876802.1:n.-53G>A
XR_001750326.2:n.385G>A
XR_001750327.2:n.385G>A
XR_002957553.1:n.415G>A
XR_943450.3:n.424G>A
XR_943451.3:n.424G>A
XR_943452.3:n.385G>A
NM_001320415.2:c.-53G>A	NP_001307344.1:n.-53G>A
NM_002382.5:c.222G>A MANE Select	NP_002373.3:p.Met74Ile
NM_145112.3:c.195G>A	NP_660087.1:p.Met65Ile
NM_145113.3:c.222G>A	NP_660088.1:p.Met74Ile
NM_001271069.2:c.144+15722G>A	NP_001257998.1:n.144+15722G>A
NM_197957.4:c.171+15722G>A	NP_932061.1:n.171+15722G>A