Canonical Allele Identifier: CA491491444

Gene: MPI

Linked Data

• ClinVar Variation Id: 1582542
• ClinVar RCV Id: RCV002091098
• dbSNP Id: rs2141206859
• gnomAD v4: 15-74896291-G-C
• MyVariant Identifiers: chr15:g.75188632G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896291G>C , CM000677.2:g.74896291G>C	GRCh38
NC_000015.9:g.75188632G>C , CM000677.1:g.75188632G>C	GRCh37
NC_000015.8:g.72975685G>C	NCBI36
NG_008921.1:g.11223G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.810G>C MANE Select	ENSP00000318318.6:p.Leu270=
ENST00000323744.10:c.627G>C	ENSP00000318192.6:p.Leu209=
ENST00000352410.8:c.810G>C	ENSP00000318318.6:p.Leu270=
ENST00000535694.5:c.660G>C	ENSP00000440447.1:p.Leu220=
ENST00000562606.5:c.750G>C	ENSP00000457020.1:p.Leu250=
ENST00000562800.5:c.256-1248G>C	ENSP00000457619.1:n.256-1248G>C
ENST00000563422.5:c.810G>C	ENSP00000457885.1:p.Leu270=
ENST00000563786.5:c.750G>C	ENSP00000455241.1:p.Leu250=
ENST00000564003.5:c.477G>C	ENSP00000454312.1:p.Leu159=
ENST00000566377.5:c.810G>C	ENSP00000455405.1:p.Leu270=
ENST00000566556.1:n.858G>C
ENST00000567177.1:c.588G>C	ENSP00000457013.1:p.Leu196=
ENST00000569931.5:c.750G>C	ENSP00000455161.1:p.Leu250=
NM_001289155.1:c.810G>C	NP_001276084.1:p.Leu270=
NM_001289156.1:c.660G>C	NP_001276085.1:p.Leu220=
NM_001289157.1:c.627G>C	NP_001276086.1:p.Leu209=
NM_002435.2:c.810G>C	NP_002426.1:p.Leu270=
XM_011521592.1:c.798G>C	XP_011519894.1:p.Leu266=
XM_011521593.1:c.750G>C	XP_011519895.1:p.Leu250=
NM_001330372.1:c.750G>C	NP_001317301.1:p.Leu250=
XM_017022208.1:c.750G>C	XP_016877697.1:p.Leu250=
XM_017022209.2:c.660G>C	XP_016877698.1:p.Leu220=
NM_002435.3:c.810G>C MANE Select	NP_002426.1:p.Leu270=
NM_001289155.2:c.810G>C	NP_001276084.1:p.Leu270=
NM_001289156.2:c.660G>C	NP_001276085.1:p.Leu220=
NM_001289157.2:c.627G>C	NP_001276086.1:p.Leu209=
NM_001330372.2:c.750G>C	NP_001317301.1:p.Leu250=