Canonical Allele Identifier: CA7662344
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 317137
ClinVar RCV Id: RCV000400366
dbSNP Id: rs778577329

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74890642G>A , CM000677.2:g.74890642G>A GRCh38
NC_000015.9:g.75182983G>A , CM000677.1:g.75182983G>A GRCh37
NC_000015.8:g.72970036G>A NCBI36
NG_008921.1:g.5574G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352410.9:c.132G>A MANE Select ENSP00000318318.6:p.Lys44=
ENST00000323744.10:c.132G>A ENSP00000318192.6:p.Lys44=
ENST00000352410.8:c.132G>A ENSP00000318318.6:p.Lys44=
ENST00000535694.5:c.-7+553G>A ENSP00000440447.1:n.-7+553G>A
ENST00000561470.5:c.*28G>A ENSP00000454267.1:n.*28G>A
ENST00000562606.5:c.72G>A ENSP00000457020.1:p.Lys24=
ENST00000562800.5:c.132G>A ENSP00000457619.1:p.Lys44=
ENST00000563422.5:c.132G>A ENSP00000457885.1:p.Lys44=
ENST00000563786.5:c.72G>A ENSP00000455241.1:p.Lys24=
ENST00000564003.5:c.-7+553G>A ENSP00000454312.1:n.-7+553G>A
ENST00000564633.5:c.72G>A ENSP00000455383.1:p.Lys24=
ENST00000565576.5:c.132G>A ENSP00000454619.1:p.Lys44=
ENST00000566377.5:c.132G>A ENSP00000455405.1:p.Lys44=
ENST00000567116.5:n.163G>A
ENST00000567132.5:c.132G>A ENSP00000455972.1:p.Lys44=
ENST00000567177.1:c.93G>A ENSP00000457013.1:p.Lys31=
ENST00000567570.5:c.72G>A ENSP00000455477.1:p.Lys24=
ENST00000568303.1:n.249G>A
ENST00000568828.5:c.132G>A ENSP00000455065.1:p.Lys44=
ENST00000568840.1:n.241G>A
ENST00000568907.5:c.132G>A ENSP00000457494.1:p.Lys44=
ENST00000569233.5:c.132G>A ENSP00000454622.1:p.Lys44=
ENST00000569931.5:c.72G>A ENSP00000455161.1:p.Lys24=
NM_001289155.1:c.132G>A NP_001276084.1:p.Lys44=
NM_001289156.1:c.-7+553G>A NP_001276085.1:n.-7+553G>A
NM_001289157.1:c.132G>A NP_001276086.1:p.Lys44=
NM_002435.2:c.132G>A NP_002426.1:p.Lys44=
XM_011521592.1:c.120G>A XP_011519894.1:p.Lys40=
XM_011521593.1:c.72G>A XP_011519895.1:p.Lys24=
NM_001330372.1:c.72G>A NP_001317301.1:p.Lys24=
XM_017022208.1:c.72G>A XP_016877697.1:p.Lys24=
XM_017022209.2:c.-7+553G>A XP_016877698.1:n.-7+553G>A
NM_002435.3:c.132G>A MANE Select NP_002426.1:p.Lys44=
NM_001289155.2:c.132G>A NP_001276084.1:p.Lys44=
NM_001289156.2:c.-7+553G>A NP_001276085.1:n.-7+553G>A
NM_001289157.2:c.132G>A NP_001276086.1:p.Lys44=
NM_001330372.2:c.72G>A NP_001317301.1:p.Lys24=