Canonical Allele Identifier: CA393176110

Gene: MPI

Linked Data

• MyVariant Identifiers: chr15:g.75188658T>G (hg19) ; chr15:g.74896317T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896317T>G , CM000677.2:g.74896317T>G	GRCh38
NC_000015.9:g.75188658T>G , CM000677.1:g.75188658T>G	GRCh37
NC_000015.8:g.72975711T>G	NCBI36
NG_008921.1:g.11249T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.836T>G MANE Select	ENSP00000318318.6:p.Leu279Arg
ENST00000323744.10:c.653T>G	ENSP00000318192.6:p.Leu218Arg
ENST00000352410.8:c.836T>G	ENSP00000318318.6:p.Leu279Arg
ENST00000535694.5:c.686T>G	ENSP00000440447.1:p.Leu229Arg
ENST00000562606.5:c.776T>G	ENSP00000457020.1:p.Leu259Arg
ENST00000562800.5:c.256-1222T>G	ENSP00000457619.1:n.256-1222T>G
ENST00000563422.5:c.836T>G	ENSP00000457885.1:p.Leu279Arg
ENST00000563786.5:c.776T>G	ENSP00000455241.1:p.Leu259Arg
ENST00000564003.5:c.503T>G	ENSP00000454312.1:p.Leu168Arg
ENST00000566377.5:c.836T>G	ENSP00000455405.1:p.Leu279Arg
ENST00000566556.1:n.884T>G
ENST00000567177.1:c.614T>G	ENSP00000457013.1:p.Leu205Arg
ENST00000569931.5:c.776T>G	ENSP00000455161.1:p.Leu259Arg
NM_001289155.1:c.836T>G	NP_001276084.1:p.Leu279Arg
NM_001289156.1:c.686T>G	NP_001276085.1:p.Leu229Arg
NM_001289157.1:c.653T>G	NP_001276086.1:p.Leu218Arg
NM_002435.2:c.836T>G	NP_002426.1:p.Leu279Arg
XM_011521592.1:c.824T>G	XP_011519894.1:p.Leu275Arg
XM_011521593.1:c.776T>G	XP_011519895.1:p.Leu259Arg
NM_001330372.1:c.776T>G	NP_001317301.1:p.Leu259Arg
XM_017022208.1:c.776T>G	XP_016877697.1:p.Leu259Arg
XM_017022209.2:c.686T>G	XP_016877698.1:p.Leu229Arg
NM_002435.3:c.836T>G MANE Select	NP_002426.1:p.Leu279Arg
NM_001289155.2:c.836T>G	NP_001276084.1:p.Leu279Arg
NM_001289156.2:c.686T>G	NP_001276085.1:p.Leu229Arg
NM_001289157.2:c.653T>G	NP_001276086.1:p.Leu218Arg
NM_001330372.2:c.776T>G	NP_001317301.1:p.Leu259Arg