Canonical Allele Identifier: CA491491298

Gene: MPI

Linked Data

• ClinVar Variation Id: 2094601
• ClinVar RCV Id: RCV003025528
• dbSNP Id: rs1210252631
• gnomAD v2: 15-75185558-T-C
• gnomAD v3: 15-74893217-T-C
• gnomAD v4: 15-74893217-T-C
• MyVariant Identifiers: chr15:g.75185558T>C (hg19) ; chr15:g.74893217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74893217T>C , CM000677.2:g.74893217T>C	GRCh38
NC_000015.9:g.75185558T>C , CM000677.1:g.75185558T>C	GRCh37
NC_000015.8:g.72972611T>C	NCBI36
NG_008921.1:g.8149T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352410.9:c.567T>C MANE Select	ENSP00000318318.6:p.Ala189=
ENST00000323744.10:c.487+415T>C	ENSP00000318192.6:n.487+415T>C
ENST00000352410.8:c.567T>C	ENSP00000318318.6:p.Ala189=
ENST00000535694.5:c.417T>C	ENSP00000440447.1:p.Ala139=
ENST00000561470.5:c.*463T>C	ENSP00000454267.1:n.*463T>C
ENST00000562606.5:c.507T>C	ENSP00000457020.1:p.Ala169=
ENST00000562800.5:c.255+1728T>C	ENSP00000457619.1:n.255+1728T>C
ENST00000563422.5:c.567T>C	ENSP00000457885.1:p.Ala189=
ENST00000563786.5:c.507T>C	ENSP00000455241.1:p.Ala169=
ENST00000564003.5:c.337+415T>C	ENSP00000454312.1:n.337+415T>C
ENST00000564633.5:c.507T>C	ENSP00000455383.1:p.Ala169=
ENST00000565576.5:c.567T>C	ENSP00000454619.1:p.Ala189=
ENST00000566377.5:c.567T>C	ENSP00000455405.1:p.Ala189=
ENST00000567132.5:c.525T>C	ENSP00000455972.1:p.Ala175=
ENST00000567177.1:c.448+415T>C	ENSP00000457013.1:n.448+415T>C
ENST00000568828.5:c.531T>C	ENSP00000455065.1:p.Ala177=
ENST00000568907.5:c.477T>C	ENSP00000457494.1:p.Ala159=
ENST00000569931.5:c.507T>C	ENSP00000455161.1:p.Ala169=
NM_001289155.1:c.567T>C	NP_001276084.1:p.Ala189=
NM_001289156.1:c.417T>C	NP_001276085.1:p.Ala139=
NM_001289157.1:c.487+415T>C	NP_001276086.1:n.487+415T>C
NM_002435.2:c.567T>C	NP_002426.1:p.Ala189=
XM_011521592.1:c.555T>C	XP_011519894.1:p.Ala185=
XM_011521593.1:c.507T>C	XP_011519895.1:p.Ala169=
NM_001330372.1:c.507T>C	NP_001317301.1:p.Ala169=
XM_017022208.1:c.507T>C	XP_016877697.1:p.Ala169=
XM_017022209.2:c.417T>C	XP_016877698.1:p.Ala139=
NM_002435.3:c.567T>C MANE Select	NP_002426.1:p.Ala189=
NM_001289155.2:c.567T>C	NP_001276084.1:p.Ala189=
NM_001289156.2:c.417T>C	NP_001276085.1:p.Ala139=
NM_001289157.2:c.487+415T>C	NP_001276086.1:n.487+415T>C
NM_001330372.2:c.507T>C	NP_001317301.1:p.Ala169=