Canonical Allele Identifier: CA390031772

Gene: MAX

Linked Data

• ClinVar Variation Id: 2960216
• ClinVar RCV Id: RCV003814976
• MyVariant Identifiers: chr14:g.65543311G>A (hg19) ; chr14:g.65076593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076593G>A , CM000676.2:g.65076593G>A	GRCh38
NC_000014.8:g.65543311G>A , CM000676.1:g.65543311G>A	GRCh37
NC_000014.7:g.64613064G>A	NCBI36
NG_029830.1:g.30917C>T , LRG_530:g.30917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.147C>T	ENSP00000452206.2:p.Leu49=
ENST00000556979.6:c.*819C>T	ENSP00000452378.1:n.*819C>T
ENST00000358664.9:c.366C>T MANE Select	ENSP00000351490.4:p.Leu122=
ENST00000651648.1:c.145-6224C>T	ENSP00000498863.1:n.145-6224C>T
ENST00000284165.10:c.*1210C>T	ENSP00000284165.6:n.*1210C>T
ENST00000341653.6:c.171+17115C>T	ENSP00000342482.2:n.171+17115C>T
ENST00000358402.8:c.339C>T	ENSP00000351175.4:p.Leu113=
ENST00000358664.8:c.366C>T	ENSP00000351490.4:p.Leu122=
ENST00000394606.6:c.*139C>T	ENSP00000378104.2:n.*139C>T
ENST00000553928.5:c.*155C>T	ENSP00000451907.1:n.*155C>T
ENST00000555419.5:c.258C>T	ENSP00000452405.1:p.Leu86=
ENST00000555932.5:c.107C>T	ENSP00000450763.1:p.Ser36Phe
ENST00000557277.5:c.177C>T	ENSP00000450955.1:p.Leu59=
ENST00000618858.4:c.*155C>T	ENSP00000480127.1:n.*155C>T
NM_001271069.1:c.144+17115C>T	NP_001257998.1:n.144+17115C>T
NM_002382.4:c.366C>T	NP_002373.3:p.Leu122=
NM_145112.2:c.339C>T	NP_660087.1:p.Leu113=
NM_145113.2:c.*155C>T	NP_660088.1:n.*155C>T
NM_197957.3:c.171+17115C>T	NP_932061.1:n.171+17115C>T
NR_073137.1:n.490C>T
XR_429315.2:n.653C>T
XR_943450.1:n.734C>T
XR_943451.1:n.750C>T
XR_943452.1:n.696C>T
NM_001320415.1:c.177C>T	NP_001307344.1:p.Leu59=
XM_017021312.2:c.177C>T	XP_016876801.1:p.Leu59=
XM_017021313.1:c.177C>T	XP_016876802.1:p.Leu59=
XR_001750326.2:n.711C>T
XR_001750327.2:n.630C>T
XR_002957553.1:n.1144C>T
XR_943450.3:n.734C>T
XR_943451.3:n.750C>T
XR_943452.3:n.695C>T
NM_001320415.2:c.177C>T	NP_001307344.1:p.Leu59=
NM_002382.5:c.366C>T MANE Select	NP_002373.3:p.Leu122=
NM_145112.3:c.339C>T	NP_660087.1:p.Leu113=
NM_145113.3:c.*155C>T	NP_660088.1:n.*155C>T
NM_001271069.2:c.144+17115C>T	NP_001257998.1:n.144+17115C>T
NM_197957.4:c.171+17115C>T	NP_932061.1:n.171+17115C>T