Canonical Allele Identifier: CA393171008

Gene: MPI

Linked Data

• ClinVar Variation Id: 2863794
• ClinVar RCV Id: RCV003628618
• MyVariant Identifiers: chr15:g.75183755G>A (hg19) ; chr15:g.74891414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74891414G>A , CM000677.2:g.74891414G>A	GRCh38
NC_000015.9:g.75183755G>A , CM000677.1:g.75183755G>A	GRCh37
NC_000015.8:g.72970808G>A	NCBI36
NG_008921.1:g.6346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.180G>A MANE Select	ENSP00000318318.6:p.Lys60=
ENST00000323744.10:c.180G>A	ENSP00000318192.6:p.Lys60=
ENST00000352410.8:c.180G>A	ENSP00000318318.6:p.Lys60=
ENST00000535694.5:c.30G>A	ENSP00000440447.1:p.Lys10=
ENST00000561470.5:c.*76G>A	ENSP00000454267.1:n.*76G>A
ENST00000562606.5:c.120G>A	ENSP00000457020.1:p.Lys40=
ENST00000562800.5:c.180G>A	ENSP00000457619.1:p.Lys60=
ENST00000563422.5:c.180G>A	ENSP00000457885.1:p.Lys60=
ENST00000563786.5:c.120G>A	ENSP00000455241.1:p.Lys40=
ENST00000564003.5:c.30G>A	ENSP00000454312.1:p.Lys10=
ENST00000564633.5:c.120G>A	ENSP00000455383.1:p.Lys40=
ENST00000565576.5:c.180G>A	ENSP00000454619.1:p.Lys60=
ENST00000566377.5:c.180G>A	ENSP00000455405.1:p.Lys60=
ENST00000567116.5:n.211G>A
ENST00000567132.5:c.180G>A	ENSP00000455972.1:p.Lys60=
ENST00000567177.1:c.141G>A	ENSP00000457013.1:p.Lys47=
ENST00000567570.5:c.120G>A	ENSP00000455477.1:p.Lys40=
ENST00000568828.5:c.145-1G>A	ENSP00000455065.1:n.145-1G>A
ENST00000568840.1:n.289G>A
ENST00000568907.5:c.180G>A	ENSP00000457494.1:p.Lys60=
ENST00000569233.5:c.237G>A	ENSP00000454622.1:p.Lys79=
ENST00000569931.5:c.120G>A	ENSP00000455161.1:p.Lys40=
NM_001289155.1:c.180G>A	NP_001276084.1:p.Lys60=
NM_001289156.1:c.30G>A	NP_001276085.1:p.Lys10=
NM_001289157.1:c.180G>A	NP_001276086.1:p.Lys60=
NM_002435.2:c.180G>A	NP_002426.1:p.Lys60=
XM_011521592.1:c.168G>A	XP_011519894.1:p.Lys56=
XM_011521593.1:c.120G>A	XP_011519895.1:p.Lys40=
NM_001330372.1:c.120G>A	NP_001317301.1:p.Lys40=
XM_017022208.1:c.120G>A	XP_016877697.1:p.Lys40=
XM_017022209.2:c.30G>A	XP_016877698.1:p.Lys10=
NM_002435.3:c.180G>A MANE Select	NP_002426.1:p.Lys60=
NM_001289155.2:c.180G>A	NP_001276084.1:p.Lys60=
NM_001289156.2:c.30G>A	NP_001276085.1:p.Lys10=
NM_001289157.2:c.180G>A	NP_001276086.1:p.Lys60=
NM_001330372.2:c.120G>A	NP_001317301.1:p.Lys40=