Canonical Allele Identifier: CA393177446

Gene: MPI

Linked Data

• MyVariant Identifiers: chr15:g.75189417G>C (hg19) ; chr15:g.74897076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74897076G>C , CM000677.2:g.74897076G>C	GRCh38
NC_000015.9:g.75189417G>C , CM000677.1:g.75189417G>C	GRCh37
NC_000015.8:g.72976470G>C	NCBI36
NG_008921.1:g.12008G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.910G>C MANE Select	ENSP00000318318.6:p.Asp304His
ENST00000323744.10:c.727G>C	ENSP00000318192.6:p.Asp243His
ENST00000352410.8:c.910G>C	ENSP00000318318.6:p.Asp304His
ENST00000535694.5:c.760G>C	ENSP00000440447.1:p.Asp254His
ENST00000562800.5:c.256-463G>C	ENSP00000457619.1:n.256-463G>C
ENST00000563786.5:c.850G>C	ENSP00000455241.1:p.Asp284His
ENST00000566377.5:c.845-436G>C	ENSP00000455405.1:n.845-436G>C
ENST00000566556.1:n.1643G>C
ENST00000567177.1:c.623-436G>C	ENSP00000457013.1:n.623-436G>C
ENST00000569931.5:c.850G>C	ENSP00000455161.1:p.Asp284His
NM_001289155.1:c.845-436G>C	NP_001276084.1:n.845-436G>C
NM_001289156.1:c.760G>C	NP_001276085.1:p.Asp254His
NM_001289157.1:c.727G>C	NP_001276086.1:p.Asp243His
NM_002435.2:c.910G>C	NP_002426.1:p.Asp304His
XM_011521592.1:c.898G>C	XP_011519894.1:p.Asp300His
XM_011521593.1:c.850G>C	XP_011519895.1:p.Asp284His
NM_001330372.1:c.850G>C	NP_001317301.1:p.Asp284His
XM_017022208.1:c.785-436G>C	XP_016877697.1:n.785-436G>C
XM_017022209.2:c.695-436G>C	XP_016877698.1:n.695-436G>C
NM_002435.3:c.910G>C MANE Select	NP_002426.1:p.Asp304His
NM_001289155.2:c.845-436G>C	NP_001276084.1:n.845-436G>C
NM_001289156.2:c.760G>C	NP_001276085.1:p.Asp254His
NM_001289157.2:c.727G>C	NP_001276086.1:p.Asp243His
NM_001330372.2:c.850G>C	NP_001317301.1:p.Asp284His