Canonical Allele Identifier: CA393176044
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896285G>T , CM000677.2:g.74896285G>T GRCh38
NC_000015.9:g.75188626G>T , CM000677.1:g.75188626G>T GRCh37
NC_000015.8:g.72975679G>T NCBI36
NG_008921.1:g.11217G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.804G>T MANE Select ENSP00000318318.6:p.Met268Ile
ENST00000323744.10:c.621G>T ENSP00000318192.6:p.Met207Ile
ENST00000352410.8:c.804G>T ENSP00000318318.6:p.Met268Ile
ENST00000535694.5:c.654G>T ENSP00000440447.1:p.Met218Ile
ENST00000562606.5:c.744G>T ENSP00000457020.1:p.Met248Ile
ENST00000562800.5:c.256-1254G>T ENSP00000457619.1:n.256-1254G>T
ENST00000563422.5:c.804G>T ENSP00000457885.1:p.Met268Ile
ENST00000563786.5:c.744G>T ENSP00000455241.1:p.Met248Ile
ENST00000564003.5:c.471G>T ENSP00000454312.1:p.Met157Ile
ENST00000566377.5:c.804G>T ENSP00000455405.1:p.Met268Ile
ENST00000566556.1:n.852G>T
ENST00000567177.1:c.582G>T ENSP00000457013.1:p.Met194Ile
ENST00000569931.5:c.744G>T ENSP00000455161.1:p.Met248Ile
NM_001289155.1:c.804G>T NP_001276084.1:p.Met268Ile
NM_001289156.1:c.654G>T NP_001276085.1:p.Met218Ile
NM_001289157.1:c.621G>T NP_001276086.1:p.Met207Ile
NM_002435.2:c.804G>T NP_002426.1:p.Met268Ile
XM_011521592.1:c.792G>T XP_011519894.1:p.Met264Ile
XM_011521593.1:c.744G>T XP_011519895.1:p.Met248Ile
NM_001330372.1:c.744G>T NP_001317301.1:p.Met248Ile
XM_017022208.1:c.744G>T XP_016877697.1:p.Met248Ile
XM_017022209.2:c.654G>T XP_016877698.1:p.Met218Ile
NM_002435.3:c.804G>T MANE Select NP_002426.1:p.Met268Ile
NM_001289155.2:c.804G>T NP_001276084.1:p.Met268Ile
NM_001289156.2:c.654G>T NP_001276085.1:p.Met218Ile
NM_001289157.2:c.621G>T NP_001276086.1:p.Met207Ile
NM_001330372.2:c.744G>T NP_001317301.1:p.Met248Ile