Canonical Allele Identifier: CA393175853

Gene: MPI

Linked Data

• MyVariant Identifiers: chr15:g.75188538T>A (hg19) ; chr15:g.74896197T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896197T>A , CM000677.2:g.74896197T>A	GRCh38
NC_000015.9:g.75188538T>A , CM000677.1:g.75188538T>A	GRCh37
NC_000015.8:g.72975591T>A	NCBI36
NG_008921.1:g.11129T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.716T>A MANE Select	ENSP00000318318.6:p.Leu239Gln
ENST00000323744.10:c.533T>A	ENSP00000318192.6:p.Leu178Gln
ENST00000352410.8:c.716T>A	ENSP00000318318.6:p.Leu239Gln
ENST00000535694.5:c.566T>A	ENSP00000440447.1:p.Leu189Gln
ENST00000562606.5:c.656T>A	ENSP00000457020.1:p.Leu219Gln
ENST00000562800.5:c.256-1342T>A	ENSP00000457619.1:n.256-1342T>A
ENST00000563422.5:c.716T>A	ENSP00000457885.1:p.Leu239Gln
ENST00000563786.5:c.656T>A	ENSP00000455241.1:p.Leu219Gln
ENST00000564003.5:c.383T>A	ENSP00000454312.1:p.Leu128Gln
ENST00000566377.5:c.716T>A	ENSP00000455405.1:p.Leu239Gln
ENST00000566556.1:n.764T>A
ENST00000567177.1:c.494T>A	ENSP00000457013.1:p.Leu165Gln
ENST00000569931.5:c.656T>A	ENSP00000455161.1:p.Leu219Gln
NM_001289155.1:c.716T>A	NP_001276084.1:p.Leu239Gln
NM_001289156.1:c.566T>A	NP_001276085.1:p.Leu189Gln
NM_001289157.1:c.533T>A	NP_001276086.1:p.Leu178Gln
NM_002435.2:c.716T>A	NP_002426.1:p.Leu239Gln
XM_011521592.1:c.704T>A	XP_011519894.1:p.Leu235Gln
XM_011521593.1:c.656T>A	XP_011519895.1:p.Leu219Gln
NM_001330372.1:c.656T>A	NP_001317301.1:p.Leu219Gln
XM_017022208.1:c.656T>A	XP_016877697.1:p.Leu219Gln
XM_017022209.2:c.566T>A	XP_016877698.1:p.Leu189Gln
NM_002435.3:c.716T>A MANE Select	NP_002426.1:p.Leu239Gln
NM_001289155.2:c.716T>A	NP_001276084.1:p.Leu239Gln
NM_001289156.2:c.566T>A	NP_001276085.1:p.Leu189Gln
NM_001289157.2:c.533T>A	NP_001276086.1:p.Leu178Gln
NM_001330372.2:c.656T>A	NP_001317301.1:p.Leu219Gln