Canonical Allele Identifier: CA393176124

Gene: MPI

Linked Data

• MyVariant Identifiers: chr15:g.75188666G>C (hg19) ; chr15:g.74896325G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896325G>C , CM000677.2:g.74896325G>C	GRCh38
NC_000015.9:g.75188666G>C , CM000677.1:g.75188666G>C	GRCh37
NC_000015.8:g.72975719G>C	NCBI36
NG_008921.1:g.11257G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.844G>C MANE Select	ENSP00000318318.6:p.Asp282His
ENST00000323744.10:c.661G>C	ENSP00000318192.6:p.Asp221His
ENST00000352410.8:c.844G>C	ENSP00000318318.6:p.Asp282His
ENST00000535694.5:c.694G>C	ENSP00000440447.1:p.Asp232His
ENST00000562606.5:c.784G>C	ENSP00000457020.1:p.Gly262Arg
ENST00000562800.5:c.256-1214G>C	ENSP00000457619.1:n.256-1214G>C
ENST00000563422.5:c.844G>C	ENSP00000457885.1:p.Gly282Arg
ENST00000563786.5:c.784G>C	ENSP00000455241.1:p.Asp262His
ENST00000564003.5:c.511G>C	ENSP00000454312.1:p.Gly171Arg
ENST00000566377.5:c.844G>C	ENSP00000455405.1:p.Gly282Arg
ENST00000566556.1:n.892G>C
ENST00000567177.1:c.622G>C	ENSP00000457013.1:p.Gly208Arg
ENST00000569931.5:c.784G>C	ENSP00000455161.1:p.Asp262His
NM_001289155.1:c.844G>C	NP_001276084.1:p.Gly282Arg
NM_001289156.1:c.694G>C	NP_001276085.1:p.Asp232His
NM_001289157.1:c.661G>C	NP_001276086.1:p.Asp221His
NM_002435.2:c.844G>C	NP_002426.1:p.Asp282His
XM_011521592.1:c.832G>C	XP_011519894.1:p.Asp278His
XM_011521593.1:c.784G>C	XP_011519895.1:p.Asp262His
NM_001330372.1:c.784G>C	NP_001317301.1:p.Asp262His
XM_017022208.1:c.784G>C	XP_016877697.1:p.Gly262Arg
XM_017022209.2:c.694G>C	XP_016877698.1:p.Gly232Arg
NM_002435.3:c.844G>C MANE Select	NP_002426.1:p.Asp282His
NM_001289155.2:c.844G>C	NP_001276084.1:p.Gly282Arg
NM_001289156.2:c.694G>C	NP_001276085.1:p.Asp232His
NM_001289157.2:c.661G>C	NP_001276086.1:p.Asp221His
NM_001330372.2:c.784G>C	NP_001317301.1:p.Asp262His