Canonical Allele Identifier: CA393168983
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74890547G>T , CM000677.2:g.74890547G>T GRCh38
NC_000015.9:g.75182888G>T , CM000677.1:g.75182888G>T GRCh37
NC_000015.8:g.72969941G>T NCBI36
NG_008921.1:g.5479G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352410.9:c.37G>T MANE Select ENSP00000318318.6:p.Val13Leu
ENST00000323744.10:c.37G>T ENSP00000318192.6:p.Val13Leu
ENST00000352410.8:c.37G>T ENSP00000318318.6:p.Val13Leu
ENST00000535694.5:c.-7+458G>T ENSP00000440447.1:n.-7+458G>T
ENST00000561470.5:c.149G>T ENSP00000454267.1:p.Gly50Val
ENST00000562606.5:c.-18-6G>T ENSP00000457020.1:n.-18-6G>T
ENST00000562800.5:c.37G>T ENSP00000457619.1:p.Val13Leu
ENST00000563422.5:c.37G>T ENSP00000457885.1:p.Val13Leu
ENST00000563786.5:c.-24G>T ENSP00000455241.1:n.-24G>T
ENST00000564003.5:c.-7+458G>T ENSP00000454312.1:n.-7+458G>T
ENST00000564633.5:c.-15-9G>T ENSP00000455383.1:n.-15-9G>T
ENST00000565576.5:c.37G>T ENSP00000454619.1:p.Val13Leu
ENST00000566377.5:c.37G>T ENSP00000455405.1:p.Val13Leu
ENST00000567116.5:n.68G>T
ENST00000567132.5:c.37G>T ENSP00000455972.1:p.Val13Leu
ENST00000567570.5:c.-24G>T ENSP00000455477.1:n.-24G>T
ENST00000568303.1:n.154G>T
ENST00000568828.5:c.37G>T ENSP00000455065.1:p.Val13Leu
ENST00000568840.1:n.146G>T
ENST00000568907.5:c.37G>T ENSP00000457494.1:p.Val13Leu
ENST00000569233.5:c.37G>T ENSP00000454622.1:p.Val13Leu
ENST00000569931.5:c.-18-6G>T ENSP00000455161.1:n.-18-6G>T
NM_001289155.1:c.37G>T NP_001276084.1:p.Val13Leu
NM_001289156.1:c.-7+458G>T NP_001276085.1:n.-7+458G>T
NM_001289157.1:c.37G>T NP_001276086.1:p.Val13Leu
NM_002435.2:c.37G>T NP_002426.1:p.Val13Leu
XM_011521592.1:c.25G>T XP_011519894.1:p.Val9Leu
XM_011521593.1:c.-24G>T XP_011519895.1:n.-24G>T
NM_001330372.1:c.-24G>T NP_001317301.1:n.-24G>T
XM_017022208.1:c.-24G>T XP_016877697.1:n.-24G>T
XM_017022209.2:c.-7+458G>T XP_016877698.1:n.-7+458G>T
NM_002435.3:c.37G>T MANE Select NP_002426.1:p.Val13Leu
NM_001289155.2:c.37G>T NP_001276084.1:p.Val13Leu
NM_001289156.2:c.-7+458G>T NP_001276085.1:n.-7+458G>T
NM_001289157.2:c.37G>T NP_001276086.1:p.Val13Leu
NM_001330372.2:c.-24G>T NP_001317301.1:n.-24G>T