Canonical Allele Identifier: CA7662546

Gene: MPI

Linked Data

• ClinVar Variation Id: 888217
• ClinVar RCV Id: RCV001121410 ; RCV002556612
• dbSNP Id: rs150525282
• ExAC: 15:75188640 A / G
• gnomAD v2: 15-75188640-A-G
• gnomAD v3: 15-74896299-A-G
• gnomAD v4: 15-74896299-A-G
• MyVariant Identifiers: chr15:g.75188640A>G (hg19) ; chr15:g.74896299A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896299A>G , CM000677.2:g.74896299A>G	GRCh38
NC_000015.9:g.75188640A>G , CM000677.1:g.75188640A>G	GRCh37
NC_000015.8:g.72975693A>G	NCBI36
NG_008921.1:g.11231A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.818A>G MANE Select	ENSP00000318318.6:p.Asn273Ser
ENST00000323744.10:c.635A>G	ENSP00000318192.6:p.Asn212Ser
ENST00000352410.8:c.818A>G	ENSP00000318318.6:p.Asn273Ser
ENST00000535694.5:c.668A>G	ENSP00000440447.1:p.Asn223Ser
ENST00000562606.5:c.758A>G	ENSP00000457020.1:p.Asn253Ser
ENST00000562800.5:c.256-1240A>G	ENSP00000457619.1:n.256-1240A>G
ENST00000563422.5:c.818A>G	ENSP00000457885.1:p.Asn273Ser
ENST00000563786.5:c.758A>G	ENSP00000455241.1:p.Asn253Ser
ENST00000564003.5:c.485A>G	ENSP00000454312.1:p.Asn162Ser
ENST00000566377.5:c.818A>G	ENSP00000455405.1:p.Asn273Ser
ENST00000566556.1:n.866A>G
ENST00000567177.1:c.596A>G	ENSP00000457013.1:p.Asn199Ser
ENST00000569931.5:c.758A>G	ENSP00000455161.1:p.Asn253Ser
NM_001289155.1:c.818A>G	NP_001276084.1:p.Asn273Ser
NM_001289156.1:c.668A>G	NP_001276085.1:p.Asn223Ser
NM_001289157.1:c.635A>G	NP_001276086.1:p.Asn212Ser
NM_002435.2:c.818A>G	NP_002426.1:p.Asn273Ser
XM_011521592.1:c.806A>G	XP_011519894.1:p.Asn269Ser
XM_011521593.1:c.758A>G	XP_011519895.1:p.Asn253Ser
NM_001330372.1:c.758A>G	NP_001317301.1:p.Asn253Ser
XM_017022208.1:c.758A>G	XP_016877697.1:p.Asn253Ser
XM_017022209.2:c.668A>G	XP_016877698.1:p.Asn223Ser
NM_002435.3:c.818A>G MANE Select	NP_002426.1:p.Asn273Ser
NM_001289155.2:c.818A>G	NP_001276084.1:p.Asn273Ser
NM_001289156.2:c.668A>G	NP_001276085.1:p.Asn223Ser
NM_001289157.2:c.635A>G	NP_001276086.1:p.Asn212Ser
NM_001330372.2:c.758A>G	NP_001317301.1:p.Asn253Ser