Canonical Allele Identifier: CA393177303

Gene: MPI

Linked Data

• MyVariant Identifiers: chr15:g.75189393G>C (hg19) ; chr15:g.74897052G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74897052G>C , CM000677.2:g.74897052G>C	GRCh38
NC_000015.9:g.75189393G>C , CM000677.1:g.75189393G>C	GRCh37
NC_000015.8:g.72976446G>C	NCBI36
NG_008921.1:g.11984G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352410.9:c.886G>C MANE Select	ENSP00000318318.6:p.Ala296Pro
ENST00000323744.10:c.703G>C	ENSP00000318192.6:p.Ala235Pro
ENST00000352410.8:c.886G>C	ENSP00000318318.6:p.Ala296Pro
ENST00000535694.5:c.736G>C	ENSP00000440447.1:p.Ala246Pro
ENST00000562800.5:c.256-487G>C	ENSP00000457619.1:n.256-487G>C
ENST00000563786.5:c.826G>C	ENSP00000455241.1:p.Ala276Pro
ENST00000566377.5:c.845-460G>C	ENSP00000455405.1:n.845-460G>C
ENST00000566556.1:n.1619G>C
ENST00000567177.1:c.623-460G>C	ENSP00000457013.1:n.623-460G>C
ENST00000569931.5:c.826G>C	ENSP00000455161.1:p.Ala276Pro
NM_001289155.1:c.845-460G>C	NP_001276084.1:n.845-460G>C
NM_001289156.1:c.736G>C	NP_001276085.1:p.Ala246Pro
NM_001289157.1:c.703G>C	NP_001276086.1:p.Ala235Pro
NM_002435.2:c.886G>C	NP_002426.1:p.Ala296Pro
XM_011521592.1:c.874G>C	XP_011519894.1:p.Ala292Pro
XM_011521593.1:c.826G>C	XP_011519895.1:p.Ala276Pro
NM_001330372.1:c.826G>C	NP_001317301.1:p.Ala276Pro
XM_017022208.1:c.785-460G>C	XP_016877697.1:n.785-460G>C
XM_017022209.2:c.695-460G>C	XP_016877698.1:n.695-460G>C
NM_002435.3:c.886G>C MANE Select	NP_002426.1:p.Ala296Pro
NM_001289155.2:c.845-460G>C	NP_001276084.1:n.845-460G>C
NM_001289156.2:c.736G>C	NP_001276085.1:p.Ala246Pro
NM_001289157.2:c.703G>C	NP_001276086.1:p.Ala235Pro
NM_001330372.2:c.826G>C	NP_001317301.1:p.Ala276Pro