Canonical Allele Identifier: CA390031871

Gene: MAX

Linked Data

• ClinVar Variation Id: 1730176
• ClinVar RCV Id: RCV002454751 ; RCV003517377
• MyVariant Identifiers: chr14:g.65543346G>T (hg19) ; chr14:g.65076628G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076628G>T , CM000676.2:g.65076628G>T	GRCh38
NC_000014.8:g.65543346G>T , CM000676.1:g.65543346G>T	GRCh37
NC_000014.7:g.64613099G>T	NCBI36
NG_029830.1:g.30882C>A , LRG_530:g.30882C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.112C>A	ENSP00000452206.2:p.Leu38Met
ENST00000556979.6:c.*784C>A	ENSP00000452378.1:n.*784C>A
ENST00000358664.9:c.331C>A MANE Select	ENSP00000351490.4:p.Leu111Met
ENST00000651648.1:c.145-6259C>A	ENSP00000498863.1:n.145-6259C>A
ENST00000284165.10:c.*1175C>A	ENSP00000284165.6:n.*1175C>A
ENST00000341653.6:c.171+17080C>A	ENSP00000342482.2:n.171+17080C>A
ENST00000358402.8:c.304C>A	ENSP00000351175.4:p.Leu102Met
ENST00000358664.8:c.331C>A	ENSP00000351490.4:p.Leu111Met
ENST00000394606.6:c.*104C>A	ENSP00000378104.2:n.*104C>A
ENST00000553928.5:c.*120C>A	ENSP00000451907.1:n.*120C>A
ENST00000555419.5:c.223C>A	ENSP00000452405.1:p.Leu75Met
ENST00000555932.5:c.72C>A	ENSP00000450763.1:p.Asn24Lys
ENST00000556892.5:c.112C>A	ENSP00000452206.1:p.Leu38Met
ENST00000557277.5:c.142C>A	ENSP00000450955.1:p.Leu48Met
ENST00000618858.4:c.*120C>A	ENSP00000480127.1:n.*120C>A
NM_001271069.1:c.144+17080C>A	NP_001257998.1:n.144+17080C>A
NM_002382.4:c.331C>A	NP_002373.3:p.Leu111Met
NM_145112.2:c.304C>A	NP_660087.1:p.Leu102Met
NM_145113.2:c.*120C>A	NP_660088.1:n.*120C>A
NM_197957.3:c.171+17080C>A	NP_932061.1:n.171+17080C>A
NR_073137.1:n.455C>A
XR_429315.2:n.618C>A
XR_943450.1:n.699C>A
XR_943451.1:n.715C>A
XR_943452.1:n.661C>A
NM_001320415.1:c.142C>A	NP_001307344.1:p.Leu48Met
XM_017021312.2:c.142C>A	XP_016876801.1:p.Leu48Met
XM_017021313.1:c.142C>A	XP_016876802.1:p.Leu48Met
XR_001750326.2:n.676C>A
XR_001750327.2:n.595C>A
XR_002957553.1:n.1109C>A
XR_943450.3:n.699C>A
XR_943451.3:n.715C>A
XR_943452.3:n.660C>A
NM_001320415.2:c.142C>A	NP_001307344.1:p.Leu48Met
NM_002382.5:c.331C>A MANE Select	NP_002373.3:p.Leu111Met
NM_145112.3:c.304C>A	NP_660087.1:p.Leu102Met
NM_145113.3:c.*120C>A	NP_660088.1:n.*120C>A
NM_001271069.2:c.144+17080C>A	NP_001257998.1:n.144+17080C>A
NM_197957.4:c.171+17080C>A	NP_932061.1:n.171+17080C>A