Canonical Allele Identifier: CA393175848

Gene: MPI

Linked Data

• ClinVar Variation Id: 2485328
• ClinVar RCV Id: RCV003205279
• MyVariant Identifiers: chr15:g.75188535T>G (hg19) ; chr15:g.74896194T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896194T>G , CM000677.2:g.74896194T>G	GRCh38
NC_000015.9:g.75188535T>G , CM000677.1:g.75188535T>G	GRCh37
NC_000015.8:g.72975588T>G	NCBI36
NG_008921.1:g.11126T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.713T>G MANE Select	ENSP00000318318.6:p.Leu238Trp
ENST00000323744.10:c.530T>G	ENSP00000318192.6:p.Leu177Trp
ENST00000352410.8:c.713T>G	ENSP00000318318.6:p.Leu238Trp
ENST00000535694.5:c.563T>G	ENSP00000440447.1:p.Leu188Trp
ENST00000562606.5:c.653T>G	ENSP00000457020.1:p.Leu218Trp
ENST00000562800.5:c.256-1345T>G	ENSP00000457619.1:n.256-1345T>G
ENST00000563422.5:c.713T>G	ENSP00000457885.1:p.Leu238Trp
ENST00000563786.5:c.653T>G	ENSP00000455241.1:p.Leu218Trp
ENST00000564003.5:c.380T>G	ENSP00000454312.1:p.Leu127Trp
ENST00000566377.5:c.713T>G	ENSP00000455405.1:p.Leu238Trp
ENST00000566556.1:n.761T>G
ENST00000567177.1:c.491T>G	ENSP00000457013.1:p.Leu164Trp
ENST00000569931.5:c.653T>G	ENSP00000455161.1:p.Leu218Trp
NM_001289155.1:c.713T>G	NP_001276084.1:p.Leu238Trp
NM_001289156.1:c.563T>G	NP_001276085.1:p.Leu188Trp
NM_001289157.1:c.530T>G	NP_001276086.1:p.Leu177Trp
NM_002435.2:c.713T>G	NP_002426.1:p.Leu238Trp
XM_011521592.1:c.701T>G	XP_011519894.1:p.Leu234Trp
XM_011521593.1:c.653T>G	XP_011519895.1:p.Leu218Trp
NM_001330372.1:c.653T>G	NP_001317301.1:p.Leu218Trp
XM_017022208.1:c.653T>G	XP_016877697.1:p.Leu218Trp
XM_017022209.2:c.563T>G	XP_016877698.1:p.Leu188Trp
NM_002435.3:c.713T>G MANE Select	NP_002426.1:p.Leu238Trp
NM_001289155.2:c.713T>G	NP_001276084.1:p.Leu238Trp
NM_001289156.2:c.563T>G	NP_001276085.1:p.Leu188Trp
NM_001289157.2:c.530T>G	NP_001276086.1:p.Leu177Trp
NM_001330372.2:c.653T>G	NP_001317301.1:p.Leu218Trp