Canonical Allele Identifier: CA393175849

Gene: MPI

Linked Data

• gnomAD v4: 15-74896195-G-C
• MyVariant Identifiers: chr15:g.75188536G>C (hg19) ; chr15:g.74896195G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896195G>C , CM000677.2:g.74896195G>C	GRCh38
NC_000015.9:g.75188536G>C , CM000677.1:g.75188536G>C	GRCh37
NC_000015.8:g.72975589G>C	NCBI36
NG_008921.1:g.11127G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.714G>C MANE Select	ENSP00000318318.6:p.Leu238Phe
ENST00000323744.10:c.531G>C	ENSP00000318192.6:p.Leu177Phe
ENST00000352410.8:c.714G>C	ENSP00000318318.6:p.Leu238Phe
ENST00000535694.5:c.564G>C	ENSP00000440447.1:p.Leu188Phe
ENST00000562606.5:c.654G>C	ENSP00000457020.1:p.Leu218Phe
ENST00000562800.5:c.256-1344G>C	ENSP00000457619.1:n.256-1344G>C
ENST00000563422.5:c.714G>C	ENSP00000457885.1:p.Leu238Phe
ENST00000563786.5:c.654G>C	ENSP00000455241.1:p.Leu218Phe
ENST00000564003.5:c.381G>C	ENSP00000454312.1:p.Leu127Phe
ENST00000566377.5:c.714G>C	ENSP00000455405.1:p.Leu238Phe
ENST00000566556.1:n.762G>C
ENST00000567177.1:c.492G>C	ENSP00000457013.1:p.Leu164Phe
ENST00000569931.5:c.654G>C	ENSP00000455161.1:p.Leu218Phe
NM_001289155.1:c.714G>C	NP_001276084.1:p.Leu238Phe
NM_001289156.1:c.564G>C	NP_001276085.1:p.Leu188Phe
NM_001289157.1:c.531G>C	NP_001276086.1:p.Leu177Phe
NM_002435.2:c.714G>C	NP_002426.1:p.Leu238Phe
XM_011521592.1:c.702G>C	XP_011519894.1:p.Leu234Phe
XM_011521593.1:c.654G>C	XP_011519895.1:p.Leu218Phe
NM_001330372.1:c.654G>C	NP_001317301.1:p.Leu218Phe
XM_017022208.1:c.654G>C	XP_016877697.1:p.Leu218Phe
XM_017022209.2:c.564G>C	XP_016877698.1:p.Leu188Phe
NM_002435.3:c.714G>C MANE Select	NP_002426.1:p.Leu238Phe
NM_001289155.2:c.714G>C	NP_001276084.1:p.Leu238Phe
NM_001289156.2:c.564G>C	NP_001276085.1:p.Leu188Phe
NM_001289157.2:c.531G>C	NP_001276086.1:p.Leu177Phe
NM_001330372.2:c.654G>C	NP_001317301.1:p.Leu218Phe