Canonical Allele Identifier: CA393177295

Gene: MPI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74897050G>T , CM000677.2:g.74897050G>T	GRCh38
NC_000015.9:g.75189391G>T , CM000677.1:g.75189391G>T	GRCh37
NC_000015.8:g.72976444G>T	NCBI36
NG_008921.1:g.11982G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002435.3:c.884G>T MANE Select	NP_002426.1:p.Arg295Leu
ENST00000352410.9:c.884G>T MANE Select	ENSP00000318318.6:p.Arg295Leu
NM_001289155.1:c.845-462G>T	NP_001276084.1:n.845-462G>T
NM_001289155.2:c.845-462G>T	NP_001276084.1:n.845-462G>T
NM_001289156.1:c.734G>T	NP_001276085.1:p.Arg245Leu
NM_001289156.2:c.734G>T	NP_001276085.1:p.Arg245Leu
NM_001289157.1:c.701G>T	NP_001276086.1:p.Arg234Leu
NM_001289157.2:c.701G>T	NP_001276086.1:p.Arg234Leu
NM_001330372.1:c.824G>T	NP_001317301.1:p.Arg275Leu
NM_001330372.2:c.824G>T	NP_001317301.1:p.Arg275Leu
NM_002435.2:c.884G>T	NP_002426.1:p.Arg295Leu
ENST00000323744.10:c.701G>T	ENSP00000318192.6:p.Arg234Leu
ENST00000352410.8:c.884G>T	ENSP00000318318.6:p.Arg295Leu
ENST00000535694.5:c.734G>T	ENSP00000440447.1:p.Arg245Leu
ENST00000562800.5:c.256-489G>T	ENSP00000457619.1:n.256-489G>T
ENST00000563786.5:c.824G>T	ENSP00000455241.1:p.Arg275Leu
ENST00000566377.5:c.845-462G>T	ENSP00000455405.1:n.845-462G>T
ENST00000566556.1:n.1617G>T
ENST00000567177.1:c.623-462G>T	ENSP00000457013.1:n.623-462G>T
ENST00000569931.5:c.824G>T	ENSP00000455161.1:p.Arg275Leu
XM_011521592.1:c.872G>T	XP_011519894.1:p.Arg291Leu
XM_011521593.1:c.824G>T	XP_011519895.1:p.Arg275Leu
XM_017022208.1:c.785-462G>T	XP_016877697.1:n.785-462G>T
XM_017022209.2:c.695-462G>T	XP_016877698.1:n.695-462G>T