Canonical Allele Identifier: CA393174830

Gene: MPI

Linked Data

• MyVariant Identifiers: chr15:g.75185649A>C (hg19) ; chr15:g.74893308A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74893308A>C , CM000677.2:g.74893308A>C	GRCh38
NC_000015.9:g.75185649A>C , CM000677.1:g.75185649A>C	GRCh37
NC_000015.8:g.72972702A>C	NCBI36
NG_008921.1:g.8240A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352410.9:c.658A>C MANE Select	ENSP00000318318.6:p.Ile220Leu
ENST00000323744.10:c.487+506A>C	ENSP00000318192.6:n.487+506A>C
ENST00000352410.8:c.658A>C	ENSP00000318318.6:p.Ile220Leu
ENST00000535694.5:c.508A>C	ENSP00000440447.1:p.Ile170Leu
ENST00000561470.5:c.*554A>C	ENSP00000454267.1:n.*554A>C
ENST00000562606.5:c.598A>C	ENSP00000457020.1:p.Ile200Leu
ENST00000562800.5:c.255+1819A>C	ENSP00000457619.1:n.255+1819A>C
ENST00000563422.5:c.658A>C	ENSP00000457885.1:p.Ile220Leu
ENST00000563786.5:c.598A>C	ENSP00000455241.1:p.Ile200Leu
ENST00000564003.5:c.337+506A>C	ENSP00000454312.1:n.337+506A>C
ENST00000565576.5:c.658A>C	ENSP00000454619.1:p.Ile220Leu
ENST00000566377.5:c.658A>C	ENSP00000455405.1:p.Ile220Leu
ENST00000567177.1:c.448+506A>C	ENSP00000457013.1:n.448+506A>C
ENST00000569931.5:c.598A>C	ENSP00000455161.1:p.Ile200Leu
NM_001289155.1:c.658A>C	NP_001276084.1:p.Ile220Leu
NM_001289156.1:c.508A>C	NP_001276085.1:p.Ile170Leu
NM_001289157.1:c.487+506A>C	NP_001276086.1:n.487+506A>C
NM_002435.2:c.658A>C	NP_002426.1:p.Ile220Leu
XM_011521592.1:c.646A>C	XP_011519894.1:p.Ile216Leu
XM_011521593.1:c.598A>C	XP_011519895.1:p.Ile200Leu
NM_001330372.1:c.598A>C	NP_001317301.1:p.Ile200Leu
XM_017022208.1:c.598A>C	XP_016877697.1:p.Ile200Leu
XM_017022209.2:c.508A>C	XP_016877698.1:p.Ile170Leu
NM_002435.3:c.658A>C MANE Select	NP_002426.1:p.Ile220Leu
NM_001289155.2:c.658A>C	NP_001276084.1:p.Ile220Leu
NM_001289156.2:c.508A>C	NP_001276085.1:p.Ile170Leu
NM_001289157.2:c.487+506A>C	NP_001276086.1:n.487+506A>C
NM_001330372.2:c.598A>C	NP_001317301.1:p.Ile200Leu