Canonical Allele Identifier: CA14403030
Gene: PLEKHM1 HGNC NCBI

Linked Data

dbSNP Id: rs17631303

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45439036A>G , CM000679.2:g.45439036A>G GRCh38
NC_000017.10:g.43516402A>G , CM000679.1:g.43516402A>G GRCh37
NC_000017.9:g.40872185A>G NCBI36
NG_012932.1:g.56745T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000446609.7:c.3059+441T>C ENSP00000394344.3:n.3059+441T>C
ENST00000585506.2:n.369+441T>C
ENST00000700123.1:c.*2636+441T>C ENSP00000514812.1:n.*2636+441T>C
ENST00000700124.1:c.*2801+441T>C ENSP00000514813.1:n.*2801+441T>C
ENST00000430334.8:c.3059+441T>C MANE Select ENSP00000389913.3:n.3059+441T>C
ENST00000430334.7:c.3059+441T>C ENSP00000389913.3:n.3059+441T>C
ENST00000579131.5:n.445+441T>C
ENST00000579197.5:c.*2619+441T>C ENSP00000462282.1:n.*2619+441T>C
ENST00000580404.5:n.561+441T>C
ENST00000581448.5:c.*1666+441T>C ENSP00000462160.1:n.*1666+441T>C
ENST00000591580.1:c.229+441T>C
NM_014798.2:c.3059+441T>C NP_055613.1:n.3059+441T>C
NR_027774.1:n.2981+441T>C
NR_027782.1:n.2844+441T>C
XM_006722201.2:c.2669+441T>C XP_006722264.1:n.2669+441T>C
XM_006722202.2:c.2669+441T>C XP_006722265.1:n.2669+441T>C
XM_011525523.1:c.3059+441T>C XP_011523825.1:n.3059+441T>C
XM_011525524.1:c.3059+441T>C XP_011523826.1:n.3059+441T>C
XM_011525525.1:c.2906+441T>C XP_011523827.1:n.2906+441T>C
XM_011525526.1:c.2858+441T>C XP_011523828.1:n.2858+441T>C
XM_011525527.1:c.2669+441T>C XP_011523829.1:n.2669+441T>C
XM_011525528.1:c.1496+441T>C XP_011523830.1:n.1496+441T>C
XR_934624.1:n.3268+441T>C
XR_934625.1:n.3031+441T>C
XM_006722201.4:c.2669+441T>C XP_006722264.1:n.2669+441T>C
XM_011525523.2:c.3059+441T>C XP_011523825.1:n.3059+441T>C
XM_011525528.2:c.1496+441T>C XP_011523830.1:n.1496+441T>C
XM_017025451.1:c.3059+441T>C XP_016880940.1:n.3059+441T>C
XM_017025452.1:c.2792+441T>C XP_016880941.1:n.2792+441T>C
XM_017025453.1:c.2669+441T>C XP_016880942.1:n.2669+441T>C
XM_017025454.2:c.1484+441T>C XP_016880943.1:n.1484+441T>C
NM_014798.3:c.3059+441T>C MANE Select NP_055613.1:n.3059+441T>C
NR_027774.2:n.2922+441T>C
NR_027782.2:n.2785+441T>C