Canonical Allele Identifier: CA491491418

Gene: MPI

Linked Data

• ClinVar Variation Id: 1086552
• ClinVar RCV Id: RCV001404360
• dbSNP Id: rs2141206776
• MyVariant Identifiers: chr15:g.75188597C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74896256C>T , CM000677.2:g.74896256C>T	GRCh38
NC_000015.9:g.75188597C>T , CM000677.1:g.75188597C>T	GRCh37
NC_000015.8:g.72975650C>T	NCBI36
NG_008921.1:g.11188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.775C>T MANE Select	ENSP00000318318.6:p.Leu259=
ENST00000323744.10:c.592C>T	ENSP00000318192.6:p.Leu198=
ENST00000352410.8:c.775C>T	ENSP00000318318.6:p.Leu259=
ENST00000535694.5:c.625C>T	ENSP00000440447.1:p.Leu209=
ENST00000562606.5:c.715C>T	ENSP00000457020.1:p.Leu239=
ENST00000562800.5:c.256-1283C>T	ENSP00000457619.1:n.256-1283C>T
ENST00000563422.5:c.775C>T	ENSP00000457885.1:p.Leu259=
ENST00000563786.5:c.715C>T	ENSP00000455241.1:p.Leu239=
ENST00000564003.5:c.442C>T	ENSP00000454312.1:p.Leu148=
ENST00000566377.5:c.775C>T	ENSP00000455405.1:p.Leu259=
ENST00000566556.1:n.823C>T
ENST00000567177.1:c.553C>T	ENSP00000457013.1:p.Leu185=
ENST00000569931.5:c.715C>T	ENSP00000455161.1:p.Leu239=
NM_001289155.1:c.775C>T	NP_001276084.1:p.Leu259=
NM_001289156.1:c.625C>T	NP_001276085.1:p.Leu209=
NM_001289157.1:c.592C>T	NP_001276086.1:p.Leu198=
NM_002435.2:c.775C>T	NP_002426.1:p.Leu259=
XM_011521592.1:c.763C>T	XP_011519894.1:p.Leu255=
XM_011521593.1:c.715C>T	XP_011519895.1:p.Leu239=
NM_001330372.1:c.715C>T	NP_001317301.1:p.Leu239=
XM_017022208.1:c.715C>T	XP_016877697.1:p.Leu239=
XM_017022209.2:c.625C>T	XP_016877698.1:p.Leu209=
NM_002435.3:c.775C>T MANE Select	NP_002426.1:p.Leu259=
NM_001289155.2:c.775C>T	NP_001276084.1:p.Leu259=
NM_001289156.2:c.625C>T	NP_001276085.1:p.Leu209=
NM_001289157.2:c.592C>T	NP_001276086.1:p.Leu198=
NM_001330372.2:c.715C>T	NP_001317301.1:p.Leu239=